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Journal articles on the topic 'Aberrant Repair'

Author: Grafiati

Published: 25 January 2025

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1

Rawal, Chetan C., Nadejda L. Butova, Anik Mitra, and Irene Chiolo. "An Expanding Toolkit for Heterochromatin Repair Studies." Genes 13, no. 3 (March 17, 2022): 529. http://dx.doi.org/10.3390/genes13030529.

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Pericentromeric heterochromatin is mostly composed of repetitive DNA sequences prone to aberrant recombination. Cells have developed highly specialized mechanisms to enable ‘safe’ homologous recombination (HR) repair while preventing aberrant recombination in this domain. Understanding heterochromatin repair responses is essential to understanding the critical mechanisms responsible for genome integrity and tumor suppression. Here, we review the tools, approaches, and methods currently available to investigate double-strand break (DSB) repair in pericentromeric regions, and also suggest how technologies recently developed for euchromatin repair studies can be adapted to characterize responses in heterochromatin. With this ever-growing toolkit, we are witnessing exciting progress in our understanding of how the ‘dark matter’ of the genome is repaired, greatly improving our understanding of genome stability mechanisms.

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2

Leong, Merrin Man Long, Arthur Kwok Leung Cheung, Wei Dai, Sai Wah Tsao, Chi Man Tsang, Christopher W. Dawson, Josephine Mun Yee Ko, and Maria Li Lung. "EBV infection is associated with histone bivalent switch modifications in squamous epithelial cells." Proceedings of the National Academy of Sciences 116, no. 28 (June 24, 2019): 14144–53. http://dx.doi.org/10.1073/pnas.1821752116.

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Epstein−Barr virus (EBV) induces histone modifications to regulate signaling pathways involved in EBV-driven tumorigenesis. To date, the regulatory mechanisms involved are poorly understood. In this study, we show that EBV infection of epithelial cells is associated with aberrant histone modification; specifically, aberrant histone bivalent switches by reducing the transcriptional activation histone mark (H3K4me3) and enhancing the suppressive mark (H3K27me3) at the promoter regions of a panel of DNA damage repair members in immortalized nasopharyngeal epithelial (NPE) cells. Sixteen DNA damage repair family members in base excision repair (BER), homologous recombination, nonhomologous end-joining, and mismatch repair (MMR) pathways showed aberrant histone bivalent switches. Among this panel of DNA repair members,MLH1, involved in MMR, was significantly down-regulated in EBV-infected NPE cells through aberrant histone bivalent switches in a promoter hypermethylation-independent manner. Functionally, expression ofMLH1correlated closely with cisplatin sensitivity both in vitro and in vivo. Moreover, seven BER members with aberrant histone bivalent switches in the EBV-positive NPE cell lines were significantly enriched in pathway analysis in a promoter hypermethylation-independent manner. This observation is further validated by their down-regulation in EBV-infected NPE cells. The in vitro comet and apurinic/apyrimidinic site assays further confirmed that EBV-infected NPE cells showed reduced DNA damage repair responsiveness. These findings suggest the importance of EBV-associated aberrant histone bivalent switch in host cells in subsequent suppression of DNA damage repair genes in a methylation-independent manner.

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3

Yamamoto, Masaki, Hironobu Okada, Junko Nakashima, and Takashi Anayama. "Thoracic endovascular aortic repair of an aberrant arterial aneurysm with pulmonary sequestration." Interactive CardioVascular and Thoracic Surgery 30, no. 1 (October 3, 2019): 156–58. http://dx.doi.org/10.1093/icvts/ivz233.

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Abstract We describe a treatment strategy for an aberrant arterial aneurysm associated with pulmonary sequestration. A 58-year-old man with impending aberrant arterial aneurysm rupture underwent a 2-stage surgery that included an emergency thoracic endovascular aortic repair (TEVAR) of the descending aorta to occlude the origin of the aberrant artery, followed by lobectomy. TEVAR can lead to faster occlusion of the aneurysm and can avoid operative risk of aneurysm rupture during lobectomy. The aberrant artery was broad where it branched off the aorta and had a short neck, rendering primary ligation or stump-forming unsuitable. Pathological findings revealed the fragility of the aberrant artery; thus, its root was prone to breakdown of the stump after simple aneurysmectomy. Furthermore, TEVAR may reduce graft infection during lobectomy in the second surgery. The 2-stage surgery may be useful for aberrant aneurysms complicated by pulmonary sequestration.

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4

Eroshenko, D. A., E. A. Diatlova, V. M. Golyshev, A. V. Endutkin, and D. O. Zharkov. "Aberrant repair of 8-oxoguanine in short DNA bulges." Доклады Российской академии наук. Науки о жизни 515, no. 2 (April 15, 2024): 14–18. http://dx.doi.org/10.31857/s2686738924020031.

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The presence of DNA damage can increase the likelihood of DNA replication errors and promote mutations. In particular, pauses of DNA polymerase at the site of damage can lead to polymerase slippage and the formation of 1–2 nucleotide bulges. Repair of such structures using an undamaged DNA template leads to small deletions. One of the most abundant oxidative DNA lesions, 8-oxoguanine (oxoG), has been shown to induce small deletions but the mechanism of this phenomenon is currently unknown. We have studied the aberrant repair of oxoG, located in one- and two-nucleotide bulges, by the Escherichia coli and human base excision repair systems. Our results indicate that the repair in such substrates can serve as a mechanism for fixing small deletions in bacteria but not in humans.

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5

An, Kang, Shoujun Li, Jun Yan, Xu Wang, and Zhongdong Hua. "Translocation of aberrant left subclavian artery and resection of Kommerell diverticulum during the concomitant repair of intracardiac anomalies." Interactive CardioVascular and Thoracic Surgery 32, no. 1 (November 21, 2020): 118–21. http://dx.doi.org/10.1093/icvts/ivaa226.

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Abstract OBJECTIVES To assess the safety and efficacy of the translocation of the aberrant left subclavian artery (LSCA) and resection of the Kommerell diverticulum during the concomitant repair of intracardiac anomalies for paediatric patients who had a right-sided aortic arch. METHODS A retrospective review of paediatric patients who were diagnosed right-sided aortic arch, aberrant LSCA, Kommerell diverticulum and intracardiac anomalies between 2015 and 2019 was conducted. Patients who underwent translocation of the aberrant LSCA, diverticulum resection and concomitant intracardiac repair were included. RESULTS Eight patients underwent translocation of aberrant LSCA, diverticulum resection, ligamentum division and concomitant repair of the associated intracardiac anomalies. All patients were male. The median age was 1.3 years (range 0.4–5.5 years) and the median weight was 10.0 kg (range 6.1–21.0 kg). The most commonly combined intracardiac anomaly was a ventricular septal defect. Seven patients (87.5%) had preoperative respiratory or gastrointestinal symptoms. There was no early mortality and no postoperative complications. During the median follow-up of 23 months (range 4–43 months), no patient had residual respiratory or gastrointestinal symptoms. A postoperative computed tomography scan was performed in 3 patients, all of which showed patent LSCA–left carotid artery anastomosis. CONCLUSIONS Translocation of the aberrant LSCA and resection of the Kommerell diverticulum can be safely performed during the concomitant repair of intracardiac anomalies for paediatric patients. This approach could eliminate residual respiratory and gastrointestinal symptoms, and prevent reintervention in the future.

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6

Campbell, TM, WT Wong, R. Fässler, and EJ Mackie. "Aberrant bone repair in Tenascin-C null mice." Bone 27, no. 4 (October 2000): 26. http://dx.doi.org/10.1016/s8756-3282(00)80085-x.

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7

Verzini, Fabio, Giacomo Isernia, Gioele Simonte, Paola De Rango, Piergiorgio Cao, Patrizio Castelli, Ciro Ferrer, et al. "Results of aberrant right subclavian artery aneurysm repair." Journal of Vascular Surgery 62, no. 2 (August 2015): 343–50. http://dx.doi.org/10.1016/j.jvs.2015.03.038.

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8

Mann, Christopher J., Eusebio Perdiguero, Yacine Kharraz, Susana Aguilar, Patrizia Pessina, Antonio L. Serrano, and Pura Muñoz-Cánoves. "Aberrant repair and fibrosis development in skeletal muscle." Skeletal Muscle 1, no. 1 (2011): 21. http://dx.doi.org/10.1186/2044-5040-1-21.

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9

Henshaw, Timothy F., Michael Feig, and Robert P. Hausinger. "Aberrant activity of the DNA repair enzyme AlkB." Journal of Inorganic Biochemistry 98, no. 5 (May 2004): 856–61. http://dx.doi.org/10.1016/j.jinorgbio.2003.10.021.

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10

Orion, K. C. "Results of aberrant right subclavian artery aneurysm repair." Yearbook of Vascular Surgery 2016 (2016): 164–66. https://doi.org/10.1016/j.yvas.2016.06.060.

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11

Lamb, KM, N. Moudgill, AK Whisenhunt, M. Ayad, B. Abai, D. Salvatore, and PJ DiMuzio. "Hybrid endovascular treatment of an aberrant right subclavian artery with Kommerell aneurysm." Vascular 22, no. 6 (February 3, 2014): 458–63. http://dx.doi.org/10.1177/1708538113518531.

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Aberrant right subclavian artery is a rare anatomical finding of abnormal embryologic development of the dorsal aorta and right subclavian artery. An associated aortic outpouching, or Kommerell diverticulum, may develop at the origin of the aberrant right subclavian artery. Given historically high rates of aneurysm rupture and mortality, early repair is indicated. Successful aneurysm exclusion can be accomplished with thoracic endovascular stent grafting following open carotid-subclavian bypass, maintaining upper extremities perfusion. Such hybrid techniques offer a decrease in mortality and complication rates. Herein, we describe a successful repair of a symptomatic (dysphagia, weight loss) aberrant right subclavian artery with Kommerell diverticulum using this hybrid open-endovascular approach.

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12

Kang, Leslie E., and Lorraine S. Symington. "Aberrant Double-Strand Break Repair inrad51 Mutants of Saccharomyces cerevisiae." Molecular and Cellular Biology 20, no. 24 (December 15, 2000): 9162–72. http://dx.doi.org/10.1128/mcb.20.24.9162-9172.2000.

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ABSTRACT A number of studies of Saccharomyces cerevisiae have revealed RAD51-independent recombination events. These include spontaneous and double-strand break-induced recombination between repeated sequences, and capture of a chromosome arm by break-induced replication. Although recombination between inverted repeats is considered to be a conservative intramolecular event, the lack of requirement for RAD51 suggests that repair can also occur by a nonconservative mechanism. We propose a model forRAD51-independent recombination by one-ended strand invasion coupled to DNA synthesis, followed by single-strand annealing. The Rad1/Rad10 endonuclease is required to trim intermediates formed during single-strand annealing and thus was expected to be required forRAD51-independent events by this model. Double-strand break repair between plasmid-borne inverted repeats was less efficient inrad1 rad51 double mutants than in rad1 andrad51 strains. In addition, repair events were delayed and frequently associated with plasmid loss. Furthermore, the repair products recovered from the rad1 rad51 strain were primarily in the crossover configuration, inconsistent with conservative models for mitotic double-strand break repair.

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13

Bednarkiewicz, Marek, Ivan Bruschweiler, and Jan T. Christenson. "Undiagnosed Aberrant Right Subclavian Artery: Pitfall in Aortic Arch Surgery." Cardiovascular Surgery 11, no. 1 (February 2003): 61–63. http://dx.doi.org/10.1177/096721090301100111.

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Selected cerebral perfusion as brain protection via right subclavian artery during aortic arch aneurysm repair adds safety, but may be jeopardized by aortic arch anomalies not readily recognized preoperatively. We describe a case of transverse aortic arch aneurysm repair where an undiagnosed aberrant right subclavian artery was cannulated for selective brain protection.

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14

Vos, A. W. Floris, Willem Wisselink, Abraham Rijbroek, Jurgen A. Avontuur, Radu A. Manoliu, and Jan A. Rauwerda. "Endovascular Repair of a Type B Aortic Dissection with Transposition of a Coexistent Aberrant Subclavian (Lusorian) Artery." Journal of Endovascular Therapy 9, no. 4 (August 2002): 549–53. http://dx.doi.org/10.1177/152660280200900427.

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Purpose: To report the endovascular treatment of a relatively uncommon entity: an aortic type B dissection combined with an aberrant subclavian artery (SA). Case Report: A 59-year-old patient was admitted with chest pain and interscapular back pain. A transesophageal ultrasound and magnetic resonance angiography revealed a type B aortic dissection originating at the level of an aberrant SA orifice. After failure of medical therapy, the dissection was treated by transluminal implantation of an Excluder stent-graft covering the entry site of the dissection at the aberrant SA orifice. Prior to the endovascular procedure, a transposition of the aberrant SA to the right carotid artery was performed through a supraclavicular approach. The patient remains asymptomatic at 19 months after the endovascular repair. Conclusions: Endovascular repair of a type B aortic dissection in the presence of a lusorian artery appears to be a feasible, safe, and less invasive alternative to conventional surgery. The need for concurrent transposition of the SA remains to be determined.

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15

Schubert, Maria, Richard Greil, and Rol Geisberger. "Risks and chances of aberrant DNA repair in cancer." Oncoscience 5, no. 9-10 (August 22, 2018): 256–57. http://dx.doi.org/10.18632/oncoscience.459.

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16

Iakoucheva, L. M. "Aberrant mobility phenomena of the DNA repair protein XPA." Protein Science 10, no. 7 (July 1, 2001): 1353–62. http://dx.doi.org/10.1110/ps.40101.

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17

Iakoucheva, Lilia M., Amy L. Kimzey, Christophe D. Masselon, Richard D. Smith, A. Keith Dunker, and Eric J. Ackerman. "Aberrant mobility phenomena of the DNA repair protein XPA." Protein Science 10, no. 7 (April 13, 2009): 1353–62. http://dx.doi.org/10.1110/ps.ps.40101.

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18

Hata, Hiroki, Takanori Shibukawa, and Hisashi Satoh. "Surgical Repair of Aberrant Subclavian Artery Through Clamshell Approach." Annals of Thoracic Surgery 94, no. 4 (October 2012): 1362–64. http://dx.doi.org/10.1016/j.athoracsur.2012.05.126.

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19

Alani, E., R. A. Reenan, and R. D. Kolodner. "Interaction between mismatch repair and genetic recombination in Saccharomyces cerevisiae." Genetics 137, no. 1 (May 1, 1994): 19–39. http://dx.doi.org/10.1093/genetics/137.1.19.

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Abstract The yeast Saccharomyces cerevisiae encodes a set of genes that show strong amino acid sequence similarity to MutS and MutL, proteins required for mismatch repair in Escherichia coli. We examined the role of MSH2 and PMS1, yeast homologs of mutS and mutL, respectively, in the repair of base pair mismatches formed during meiotic recombination. By using specifically marked HIS4 and ARG4 alleles, we showed that msh2 mutants displayed a severe defect in the repair of all base pair mismatches as well as 1-, 2- and 4-bp insertion/deletion mispairs. The msh2 and pms1 phenotypes were indistinguishable, suggesting that the wild-type gene products act in the same repair pathway. A comparison of gene conversion events in wild-type and msh2 mutants indicated that mismatch repair plays an important role in genetic recombination. (1) Tetrad analysis at five different loci revealed that, in msh2 mutants, the majority of aberrant segregants displayed a sectored phenotype, consistent with a failure to repair mismatches created during heteroduplex formation. In wild type, base pair mismatches were almost exclusively repaired toward conversion rather than restoration. (2) In msh2 strains 10-19% of the aberrant tetrads were Ab4:4. (3) Polarity gradients at HIS4 and ARG4 were nearly abolished in msh2 mutants. The frequency of gene conversion at the 3' end of these genes was increased and was nearly the frequency observed at the 5' end. (4) Co-conversion studies were consistent with mismatch repair acting to regulate heteroduplex DNA tract length. We favor a model proposing that recombination events occur through the formation and resolution of heteroduplex intermediates and that mismatch repair proteins specifically interact with recombination enzymes to regulate the length of symmetric heteroduplex DNA.

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20

Corcos, Laurent, Enora Le Scanf, Gaël Quéré, Danielle Arzur, Gwennina Cueff, Catherine Le Jossic-Corcos, and Cédric Le Maréchal. "Microsatellite Instability and Aberrant Pre-mRNA Splicing: How Intimate Is It?" Genes 14, no. 2 (January 25, 2023): 311. http://dx.doi.org/10.3390/genes14020311.

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Cancers that belong to the microsatellite instability (MSI) class can account for up to 15% of all cancers of the digestive tract. These cancers are characterized by inactivation, through the mutation or epigenetic silencing of one or several genes from the DNA MisMatch Repair (MMR) machinery, including MLH1, MLH3, MSH2, MSH3, MSH6, PMS1, PMS2 and Exo1. The unrepaired DNA replication errors turn into mutations at several thousand sites that contain repetitive sequences, mainly mono- or dinucleotides, and some of them are related to Lynch syndrome, a predisposition condition linked to a germline mutation in one of these genes. In addition, some mutations shortening the microsatellite (MS) stretch could occur in the 3′-intronic regions, i.e., in the ATM (ATM serine/threonine kinase), MRE11 (MRE11 homolog) or the HSP110 (Heat shock protein family H) genes. In these three cases, aberrant pre-mRNA splicing was observed, and it was characterized by the occurrence of selective exon skipping in mature mRNAs. Because both the ATM and MRE11 genes, which as act as players in the MNR (MRE11 / NBS1 (Nibrin) / RAD50 (RAD50 double strand break repair protein) DNA damage repair system, participate in double strand breaks (DSB) repair, their frequent splicing alterations in MSI cancers lead to impaired activity. This reveals the existence of a functional link between the MMR/DSB repair systems and the pre-mRNA splicing machinery, the diverted function of which is the consequence of mutations in the MS sequences.

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Weiss, Salome, Didem Haligür, Silvan Jungi, Florian S. Schönhoff, Thierry Carrel, Jürg Schmidli, and Thomas R. Wyss. "Symptomatic or aneurysmal aberrant subclavian arteries: results of surgical and hybrid repair." Interactive CardioVascular and Thoracic Surgery 29, no. 3 (April 16, 2019): 344–51. http://dx.doi.org/10.1093/icvts/ivz095.

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Abstract OBJECTIVES Indications and techniques of repair for symptomatic or aneurysmal aberrant subclavian arteries (ASA) are controversial. This study analyses presentation, treatment and outcome of patients with symptomatic and/or aneurysmal ASA. METHODS Retrospective analysis of consecutive adult patients undergoing symptomatic and/or aneurysmal ASA repair between January 2000 and June 2016. RESULTS Of 12 patients (4 females) with a median age of 66 years (range 24–75), 10 had right ASA and 2 had left ASA originating from a right aortic arch. Six patients (50%) had Kommerell’s diverticulum and 6 patients had aneurysmal dilatation of the ASA itself. Six patients presented with symptoms (dysphagia n = 4, chest pain n = 1, recurrent aspiration n = 1). Nine patients (75%) were treated by open ASA resection/ligation with or without aortic repair. Three patients (25%) underwent hybrid repair using thoracic endovascular aortic repair to exclude the aberrant artery. ASA revascularization was achieved by subclavian–carotid transposition (n = 7), carotid–subclavian bypass (n = 1), aorto-subclavian bypass (n = 3) or reimplantation after aortic graft replacement (n = 1). Thirty-day mortality was 8% (n = 1). The median follow-up duration was 44 months (range 24–151). Symptoms were relieved in 4 and persisted partially in 1, while symptom relief remained unknown in 1 patient who died during follow-up. Imaging after a median of 34 months (range 2–134) after the operation showed patent ASA revascularization in all patients and no endoleaks in the hybrid group. CONCLUSIONS Surgical and hybrid repair allows satisfying results in patients with symptomatic and/or aneurysmal ASA. The optimal procedure has to be defined on an individual patient basis. Further studies, preferably with a multicentre approach, are required to answer more specific questions on the management of these patients and especially to assess long-term results following hybrid repair.

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Hillers, Kenneth J., and Franklin W. Stahl. "The Conversion Gradient at HIS4 of Saccharomyces cerevisiae. I. Heteroduplex Rejection and Restoration of Mendelian Segregation." Genetics 153, no. 2 (October 1, 1999): 555–72. http://dx.doi.org/10.1093/genetics/153.2.555.

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Abstract In Saccharomyces cerevisiae, some gene loci manifest gradients in the frequency of aberrant segregation in meiosis, with the high end of each gradient corresponding to a hotspot for DNA double-strand breaks (DSBs). The slope of a gradient is reduced when mismatch repair functions fail to act upon heteroduplex DNA—aberrant segregation frequencies at the low end of the gradient are higher in the absence of mismatch repair. Two models for the role of mismatch repair functions in the generation of meiotic “conversion gradients” have been proposed. The heteroduplex rejection model suggests that recognition of mismatches by mismatch repair enzymes limits hybrid DNA flanking the site of a DSB. The restoration-conversion model proposes that mismatch repair does not affect the length of hybrid DNA, but instead increasingly favors restoration of Mendelian segregation over full conversion with increasing distance from the DSB site. In our experiment designed to distinguish between these two models, data for one subset of well repairable mismatches in the HIS4 gene failed to show restoration-type repair but did indicate reduction in the length of hybrid DNA, supporting the heteroduplex rejection model. However, another subset of data manifested restoration-type repair, indicating a relationship between Holliday junction resolution and mismatch repair. We also present evidence for the infrequent formation of symmetric hybrid DNA during meiotic DSB repair.

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Hamady, Mo, Paritosh M. Sharma, Radhika Patel, Anthony D. Godfrey, and Colin D. Bicknell. "Hybrid endovascular repair of aneurysmal right-sided aortic arch and Kommerell’s diverticulum using a two-vessel branched stent graft: Case report and review of literature." SAGE Open Medical Case Reports 5 (January 1, 2017): 2050313X1774908. http://dx.doi.org/10.1177/2050313x17749082.

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Right-sided aortic arches are rare, affecting approximately 0.1% of the population. They are a result of abnormal development of the primitive aortic arches and may present later in life with later life with aneurysmal expansion of the aberrant left subclavian artery ‘Kommerell’s diverticulum’. These can be challenging to treat effectively. We report a rare case presenting with mild dysphagia and right-sided aneurysmal aortic arch with aneurysmal aberrant left-sided. The patient underwent hybrid endovascular repair incorporating bilateral carotid–subclavian bypasses and dual-arch-branch endograft placement to the left and right common carotid arteries. Although endovascular approaches have been described, there are no reports of branched endografts in this scenario. Right-sided aneurysmal aortic arch and the aneurysmal aberrant left subclavian artery are rare and represent a significant therapeutic challenge. Endovascular repair in conjunction with extra-anatomical bypass utilising a custom-made branched thoracic endograft is feasible.

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Lee, Jung Il, Anagha A. Gurjar, M. A. Hassan Talukder, Andrew Rodenhouse, Kristen Manto, Mary O’Brien, Zara Karuman, Prem Kumar Govindappa, and John C. Elfar. "Purposeful Misalignment of Severed Nerve Stumps in a Standardized Transection Model Reveals Persistent Functional Deficit With Aberrant Neurofilament Distribution." Military Medicine 186, Supplement_1 (January 1, 2021): 696–703. http://dx.doi.org/10.1093/milmed/usaa344.

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ABSTRACT Background Functional recovery following primary nerve repair of a transected nerve is often poor even with advanced microsurgical techniques. Recently, we developed a novel sciatic nerve transection method where end-to-end apposition of the nerve endings with minimal gap was performed with fibrin glue. We demonstrated that transected nerve repair with gluing results in optimal functional recovery with improved axonal neurofilament distribution profile compared to the end-to-end micro-suture repair. However, the impact of axonal misdirection and misalignment of nerve fascicles remains largely unknown in nerve-injury recovery. We addressed this issue using a novel nerve repair model with gluing. Methods In our complete “Flip and Transection with Glue” model, the nerve was “first” transected to 40% of its width from each side and distal stump was transversely flipped, then 20 µL of fibrin glue was applied around the transection site and the central 20% nerve was completely transected before fibrin glue clotting. Mice were followed for 28 days with weekly assessment of sciatic function. Immunohistochemistry analysis of both sciatic nerves was performed for neurofilament distribution and angiogenesis. Tibialis anterior muscles were analyzed for atrophy and histomorphometry. Results Functional recovery following misaligned repair remained persistently low throughout the postsurgical period. Immunohistochemistry of nerve sections revealed significantly increased aberrant axonal neurofilaments in injured and distal nerve segments compared to proximal segments. Increased aberrant neurofilament profiles in the injured and distal nerve segments were associated with significantly increased nerve blood-vessel density and branching index than in the proximal segment. Injured limbs had significant muscle atrophy, and muscle fiber distribution showed significantly increased numbers of smaller muscle fibers and decreased numbers of larger muscle fibers. Conclusions These findings in a novel nerve transection mouse model with misaligned repair suggest that aberrant neurofilament distributions and axonal misdirections play an important role in functional recovery and muscle atrophy.

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25

Melnick, Ari M., Kerin Adelson, and Jonathan D. Licht. "The Theoretical Basis of Transcriptional Therapy of Cancer: Can It Be Put Into Practice?" Journal of Clinical Oncology 23, no. 17 (June 10, 2005): 3957–70. http://dx.doi.org/10.1200/jco.2005.14.498.

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Aberrant gene silencing is a frequent event in cancer and plays a critical role in the molecular pathogenesis of malignant transformation. The two major mechanisms of silencing in cancer include transcriptional repression by mutated or aberrantly expressed transcription factors, and aberrant epigenetic silencing by hypermethylation of tumor suppressor or DNA repair–related genes. Both of these mechanisms require the activities of multiprotein chromatin remodeling and modifying machines, several of which may be mutated in cancer. The end result is genetic reprogramming of cells to express combinations of genes that confer the neoplastic phenotype. Recent discoveries in transcriptional biochemistry and gene regulation indicate that therapeutic agents can be engineered to specifically target these mechanisms. We provide a framework for the clinical or translational scientist to consider how such drugs might be developed and what their impact might be on restoring cells to normal genetic programming.

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Syed, Shahrez, Sarah Aloe, Jeanette H. Sutherland, William K. Holloman, and Neal F. Lue. "Ustilago maydis Trf2 ensures genome stability by antagonizing Blm-mediated telomere recombination: Fine-tuning DNA repair factor activity at telomeres through opposing regulations." PLOS Genetics 20, no. 12 (December 9, 2024): e1011515. https://doi.org/10.1371/journal.pgen.1011515.

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TRF2 is an essential and conserved double-strand telomere binding protein that stabilizes chromosome ends by suppressing DNA damage response and aberrant DNA repair. Herein we investigated the mechanisms and functions of the Trf2 ortholog in the basidiomycete fungus Ustilago maydis, which manifests strong resemblances to metazoans with regards to the telomere and DNA repair machinery. We showed that UmTrf2 binds to Blm in vitro and inhibits Blm-mediated unwinding of telomeric DNA substrates. Consistent with a similar inhibitory activity in vivo, over-expression of Trf2 induces telomere shortening, just like deletion of blm, which is required for efficient telomere replication. While the loss of Trf2 engenders growth arrest and multiple telomere aberrations, these defects are fully suppressed by the concurrent deletion of blm or mre11 (but not other DNA repair factors). Over-expression of Blm alone triggers aberrant telomere recombination and the accumulation of aberrant telomere structures, which are blocked by concurrent Trf2 over-expression. Together, these findings highlight the suppression of Blm as a key protective mechanism of Trf2. Notably, U. maydis harbors another double-strand telomere-binding protein (Tay1), which promotes Blm activity to ensure efficient replication. We found that deletion of tay1 partially suppresses the telomere aberration of Trf2-depleted cells. Our results thus point to opposing regulation of Blm helicase by telomere proteins as a strategy for optimizing both telomere maintenance and protection. We also show that aberrant transcription of both telomere G- and C-strand is a recurrent phenotype of telomere mutants, underscoring another potential similarity between double strand breaks and de-protected telomeres.

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Ibrahim, Marina, Jennifer C. Y. Chung, Thomas F. Lindsay, and Maral Ouzounian. "Commentary: Aberrant vertebral arteries in aortic repair: Small but mighty!" JTCVS Techniques 7 (June 2021): 57–58. http://dx.doi.org/10.1016/j.xjtc.2021.03.032.

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28

Tsao, Ning, Joshua R. Brickner, Rebecca Rodell, Adit Ganguly, Matthew Wood, Clement Oyeniran, Tanveer Ahmad, et al. "Aberrant RNA methylation triggers recruitment of an alkylation repair complex." Molecular Cell 81, no. 20 (October 2021): 4228–42. http://dx.doi.org/10.1016/j.molcel.2021.09.024.

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29

Hosoba, Soh, Tomoaki Suzuki, Tohru Asai, Hiromitsu Nota, Satoshi Kuroyanagi, Takeshi Kinoshita, Noriyuki Takashima, and Masato Hayakawa. "Surgical repair of Kommerell’s diverticulum and an aberrant subclavian artery." Surgery Today 44, no. 2 (April 27, 2013): 247–51. http://dx.doi.org/10.1007/s00595-013-0602-9.

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30

Perrotta, Ida. "Atherosclerosis: From Molecular Biology to Therapeutic Perspective 2.0." International Journal of Molecular Sciences 23, no. 23 (December 2, 2022): 15158. http://dx.doi.org/10.3390/ijms232315158.

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Atherosclerosis is a chronic inflammatory disease of large- and medium-sized arteries involving aberrant immune–inflammatory responses, dysfunctional molecular pathways, and impaired tissue repair mechanisms [...]

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Mine, Takatomo, Riri Hayashi, Koichiro Ihara, Hiroyuki Kawamura, Ryutaro Kuriyama, and Yasuhiro Tominaga. "Chondral Injury After Inside-Out Meniscal Suture Repair Using Meniscal Sutures." Open Orthopaedics Journal 13, no. 1 (February 28, 2019): 72–75. http://dx.doi.org/10.2174/1874325001913010072.

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Chondral injury after arthroscopic meniscal suture repair is rare. We present a case of chondral injury due to the migration of suture after meniscal repair. The aberrant suture that remained temporarily at the medial tibiofemoral joint may have led to the chondral lesion of the femoral medial condyle and the tibial medial plateau at the weight-bearing portion.

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Johnson, Danielle P., Mahesh B. Chandrasekharan, Marie Dutreix, and Srividya Bhaskara. "Targeting DNA Repair and Chromatin Crosstalk in Cancer Therapy." Cancers 13, no. 3 (January 20, 2021): 381. http://dx.doi.org/10.3390/cancers13030381.

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Aberrant DNA repair pathways that underlie developmental diseases and cancers are potential targets for therapeutic intervention. Targeting DNA repair signal effectors, modulators and checkpoint proteins, and utilizing the synthetic lethality phenomena has led to seminal discoveries. Efforts to efficiently translate the basic findings to the clinic are currently underway. Chromatin modulation is an integral part of DNA repair cascades and an emerging field of investigation. Here, we discuss some of the key advancements made in DNA repair-based therapeutics and what is known regarding crosstalk between chromatin and repair pathways during various cellular processes, with an emphasis on cancer.

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Adamowicz, Marek, Richard Hailstone, Annie A. Demin, Emilia Komulainen, Hana Hanzlikova, Jan Brazina, Amit Gautam, Sophie E. Wells, and Keith W. Caldecott. "XRCC1 protects transcription from toxic PARP1 activity during DNA base excision repair." Nature Cell Biology 23, no. 12 (November 22, 2021): 1287–98. http://dx.doi.org/10.1038/s41556-021-00792-w.

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AbstractGenetic defects in the repair of DNA single-strand breaks (SSBs) can result in neurological disease triggered by toxic activity of the single-strand-break sensor protein PARP1. However, the mechanism(s) by which this toxic PARP1 activity triggers cellular dysfunction are unclear. Here we show that human cells lacking XRCC1 fail to rapidly recover transcription following DNA base damage, a phenotype also observed in patient-derived fibroblasts with XRCC1 mutations and Xrcc1−/− mouse neurons. This defect is caused by excessive/aberrant PARP1 activity during DNA base excision repair, resulting from the loss of PARP1 regulation by XRCC1. We show that aberrant PARP1 activity suppresses transcriptional recovery during base excision repair by promoting excessive recruitment and activity of the ubiquitin protease USP3, which as a result reduces the level of monoubiquitinated histones important for normal transcriptional regulation. Importantly, inhibition and/or deletion of PARP1 or USP3 restores transcriptional recovery in XRCC1−/− cells, highlighting PARP1 and USP3 as possible therapeutic targets in neurological disease.

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Seleim, Hamed M., Ahmed M. K. Wishahy, Basma Magdy, Mohamed Elseoudi, Rania H. Zakaria, Sherif N. Kaddah, and Mohamed M. Elbarbary. "The dilemma after an unforeseen aortic arch anomalies at thoracoscopic repair of esophageal atresia: Is curtailing surgery still a necessity?" Scandinavian Journal of Surgery 111, no. 2 (April 15, 2022): 145749692210904. http://dx.doi.org/10.1177/14574969221090487.

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Background and objective: There are several forms of relevant epi-aortic branching anomalies, and perhaps that is why different views as to the best approach have been reported. To help resolve this dilemma, we examined the unforeseen arch anomalies found at thoracoscopic repair of esophageal atresia and the outcomes. Methods: In a retrospective cohort, all consecutive patients who were thoracoscopically approached for esophageal atresia over a 5-year period with unforeseen aortic/epi-aortic branching were identified and grouped. Thoracoscopic views, operative interventions, and outcomes were studied. Results: A total of 121 neonates were thoracoscopically approached for EA, of whom 18 cases with aberrant aortic architecture were selected. Four (3%) cases were diagnosed on a preoperative echocardiography as a right-sided aortic arch, whereas unforeseen anomalous anatomies were reported in 14 cases (11.6%): left aortic arch with an aberrant right subclavian artery (ARSA) (n = 10), right-sided aortic arch with an aberrant left subclavian artery (ALSA) (n = 3), and mirror-image right arch (n = 1). Single postoperative mortality was reported among the group with left arch and ARSA (10%), whereas all the cases with right arch and ALSA died. Conclusions: In all, 11.6% of the studied series exhibited unexpected aberrant aortic architecture, with higher complication rates in comparison to the typical thoracoscopic repairs. For EA with left aortic arch and ARSA, the primary esophageal surgery could safely be completed. Meanwhile, curtailing surgery—after ligating the TEF—to get advanced imaging is still advised for both groups with the right arch due to the significant existence of vascular rings.

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Sallmyr, Annahita, and Feyruz V. Rassool. "Up-Regulated WRN and DNA Ligase IIIα Are Involved in Alternative NHEJ Repair Pathway of DNA Double Strand Breaks (DSB) in Chronic Myeloid Leukemia (CML)." Blood 110, no. 11 (November 16, 2007): 1016. http://dx.doi.org/10.1182/blood.v110.11.1016.1016.

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Abstract The oncogenic BCR-ABL in CML produces increased reactive oxygen species (ROS) leading to DSB and aberrant repair. We have previously shown that CML cells demonstrate an increased frequency of errors of non homologous end-joining (NHEJ). DSB are repaired by two major pathways, homologous recombination (HR) and NHEJ, the dominant pathway in eukaryotic cells, also known as DNA-PK dependent NHEJ (D-NHEJ). Recent reports have identified alternative or “back-up” NHEJ pathways (B-NHEJ) that are highly error-prone, and may explain the altered DSB repair reported in CML. To determine the mechanism for the aberrant NHEJ repair in CML, we examined steady state levels of D-NHEJ proteins, including Ku70/86, DNA-PKcs, Artemis and DNA Ligase IV/XRCC4 in four different BCR-ABL positive CML cell lines compared with three lymphoblastoid cell lines established from normal individuals and one BCR-ABL negative CML cell line. We find that two key components of D-NHEJ, Artemis (4–7 fold) and DNA Ligase IV (2–3 fold) are down-regulated, compared with controls. These data suggest that D-NHEJ repair is compromised in CML. To determine whether alternative NHEJ repair plays a role in the aberrant repair of DSB in CML cells, we next examined expression levels of DNA Ligase IIIα/XRCC1, PARP and other proteins known to be associated with NHEJ repair, such as the protein found to be deleted in Werner’s syndrome, WRN. We find that WRN and DNA Ligase IIIα are increased (3–6 fold) in BCR-ABL-positive CML compared with control cell lines. Importantly, DNA Ligase IIIα/XRCC1 forms a complex with WRN, suggesting that it may be a new member of the alternative repair pathway. To confirm that up-regulation of DNA Ligase IIIα and WRN are elicited by BCR-ABL, we examined the levels of these proteins in primary samples (N=4) from patients with different levels of BCR-ABL, following treatment with the tyrosine kinase inhibitor Gleevec. WRN and DNA Ligase IIIα are down regulated in patient samples where BCR-ABL levels are significantly decreased. Furthermore, we confirmed that these up-regulated proteins are involved in DSB repair in CML cells because they co-localize to induced DSB in BCR-ABL-positive cell lines stably transfected with DSB-containing DRneo plasmid, using fluorescence in situ hybridization (FISH) co-immunostaining. Importantly we show that siRNA down-regulation of WRN and DNA Ligase IIIα leads to elevated levels of unrepaired DSB and a decreased frequency of DSB repair efficiency in CML cells. In addition siRNA down-regulation of WRN leads to large deletions at the site of repair, while siRNA down-regulation of DNA Ligase IIIα results in an increased frequency of misrepair. Finally, we determined whether “correction” of main NHEJ pathway proteins in CML can lead to a decrease in the frequency of errors of end-joining repair. Over-expression of Artemis using pcDNA constructs in CML cells leads to more correct end-joining, compared with vector transfected controls. We conclude that down-regulation of Artemis and DNA Ligase IV leads to compensatory up-regulation of alternative repair pathways in BCR-ABL-positive CML cells, and suggest a role for a new protein complex in CML, in protecting and joining DNA ends, thus ensuring the survival of CML cells. Inhibition of alternative NHEJ repair may be explored in combination with other agents as a therapeutic strategy in CML.

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Stroik, Susanna, Kevin Kurtz, Kevin Lin, Sergey Karachenets, Chad L. Myers, Anja-Katrin Bielinsky, and Eric A. Hendrickson. "EXO1 resection at G-quadruplex structures facilitates resolution and replication." Nucleic Acids Research 48, no. 9 (March 31, 2020): 4960–75. http://dx.doi.org/10.1093/nar/gkaa199.

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Abstract G-quadruplexes represent unique roadblocks to DNA replication, which tends to stall at these secondary structures. Although G-quadruplexes can be found throughout the genome, telomeres, due to their G-richness, are particularly predisposed to forming these structures and thus represent difficult-to-replicate regions. Here, we demonstrate that exonuclease 1 (EXO1) plays a key role in the resolution of, and replication through, telomeric G-quadruplexes. When replication forks encounter G-quadruplexes, EXO1 resects the nascent DNA proximal to these structures to facilitate fork progression and faithful replication. In the absence of EXO1, forks accumulate at stabilized G-quadruplexes and ultimately collapse. These collapsed forks are preferentially repaired via error-prone end joining as depletion of EXO1 diverts repair away from error-free homology-dependent repair. Such aberrant repair leads to increased genomic instability, which is exacerbated at chromosome termini in the form of dysfunction and telomere loss.

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Blokland, Kaj E. C., David W. Waters, Michael Schuliga, Jane Read, Simon D. Pouwels, Christopher L. Grainge, Jade Jaffar, et al. "Senescence of IPF Lung Fibroblasts Disrupt Alveolar Epithelial Cell Proliferation and Promote Migration in Wound Healing." Pharmaceutics 12, no. 4 (April 24, 2020): 389. http://dx.doi.org/10.3390/pharmaceutics12040389.

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Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease marked by excessive accumulation of lung fibroblasts (LFs) and collagen in the lung parenchyma. The mechanisms that underlie IPF pathophysiology are thought to reflect repeated alveolar epithelial injury leading to an aberrant wound repair response. Recent work has shown that IPF-LFs display increased characteristics of senescence including growth arrest and a senescence-associated secretory phenotype (SASP) suggesting that senescent LFs contribute to dysfunctional wound repair process. Here, we investigated the influence of senescent LFs on alveolar epithelial cell repair responses in a co-culture system. Alveolar epithelial cell proliferation was attenuated when in co-culture with cells or conditioned media from, senescence-induced control LFs or IPF-LFs. Cell-cycle analyses showed that a larger number of epithelial cells were arrested in G2/M phase when co-cultured with IPF-LFs, than in monoculture. Paradoxically, the presence of LFs resulted in increased A549 migration after mechanical injury. Our data suggest that senescent LFs may contribute to aberrant re-epithelialization by inhibiting proliferation in IPF.

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Hosn, Maen Aboul, Fady Haddad, Fadi El-Merhi, Bassem Safadi, and Ali Hallal. "Repair of an aberrant subclavian arterioesophageal fistula following esophageal stent placement." World Journal of Gastrointestinal Surgery 6, no. 6 (2014): 117. http://dx.doi.org/10.4240/wjgs.v6.i6.117.

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Morisaki, Akimasa, Hidekazu Hirai, Yasuyuki Sasaki, Katsuaki Hige, Yasuyuki Bito, and Shigefumi Suehiro. "Aortoesophageal Fistula after Endovascular Repair for Aberrant Right Subclavian Artery Aneurysm." Annals of Thoracic and Cardiovascular Surgery 20, Supplement (2014): 790–93. http://dx.doi.org/10.5761/atcs.cr.12.02153.

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Gybels, Yvan, Martin T. R. Grapow, Atanas Todorov, Gisbert Wagner, and Hans-Reinhard Zerkowski. "Aberrant right pulmonary artery and double outlet ventricle: one-stage repair." Annals of Thoracic Surgery 69, no. 2 (February 2000): 630–32. http://dx.doi.org/10.1016/s0003-4975(99)01348-x.

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Nair, Kannan R., Harilal Vasu, Aju Jacob, and Bashi V. Velayudhan. "Repair of Left Subclavian Artery and Aberrant Right Subclavian Artery Aneurysms." Asian Cardiovascular and Thoracic Annals 18, no. 6 (December 2010): 581–82. http://dx.doi.org/10.1177/0218492310384156.

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Tosenovsky, P., F. Quigley, and J. Golledge. "Hybrid Repair of an Aberrant Right Subclavian Artery with Kommerell's Diverticulum." EJVES Extra 19, no. 3 (March 2010): e31-e33. http://dx.doi.org/10.1016/j.ejvsextra.2010.01.001.

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Kuzumi, Chika, Jonathan Frogel, and Daniel Applefield. "Aberrant Azygos Vein Complicating Postatrial Septal Defect Repair Intraoperative Echocardiography Examination." Anesthesia & Analgesia 112, no. 4 (April 2011): 800–802. http://dx.doi.org/10.1213/ane.0b013e31820cedc3.

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Wang, Yi Kan, Ali Bashashati, Michael S. Anglesio, Dawn R. Cochrane, Diljot S. Grewal, Gavin Ha, Andrew McPherson, et al. "Genomic consequences of aberrant DNA repair mechanisms stratify ovarian cancer histotypes." Nature Genetics 49, no. 6 (April 24, 2017): 856–65. http://dx.doi.org/10.1038/ng.3849.

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Vucemilo, Ivica, John A. Harlock, Mohammad Qadura, Mina Guirgis, Robert N. Gowing, and Jacques G. Tittley. "Hybrid Repair of Symptomatic Aberrant Right Subclavian Artery and Kommerell's Diverticulum." Annals of Vascular Surgery 28, no. 2 (February 2014): 411–20. http://dx.doi.org/10.1016/j.avsg.2013.04.016.

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Baker, Aaron C., B. Zane Atkins, W. Darrin Clouse, Robert Noll, James Sampson, and Timothy Williams. "Repair of Aberrant Right Subclavian Artery Entirely via a Supraclavicular Approach." Annals of Vascular Surgery 28, no. 2 (February 2014): 489.e1–489.e4. http://dx.doi.org/10.1016/j.avsg.2013.11.001.

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Tosenovsky, P., F. Quigley, and J. Golledge. "Hybrid Repair of an Aberrant Right Subclavian Artery with Kommerell's Diverticulum." European Journal of Vascular and Endovascular Surgery 39, no. 4 (April 2010): 521. http://dx.doi.org/10.1016/j.ejvs.2010.01.024.

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Kim, Jae Hyun, Kyung Sub Song, and Jae Bum Kim. "Open Repair of Thoracoabdominal Aortic Aneurysm in a 46-Year-Old Man with Pleural Adhesions and Aberrant Right Subclavian Artery." Texas Heart Institute Journal 45, no. 3 (June 1, 2018): 179–81. http://dx.doi.org/10.14503/thij-17-6274.

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Endovascular aortic treatment is being performed more often and offers some advantages over open surgery. Nevertheless, open repair of thoracoabdominal aortic aneurysms is still relevant in complex cases, including combined chronic aortic dissection, congenital aortic abnormalities such as aberrant right subclavian artery, and dense pleural adhesions after a previous thoracotomy. We describe our successful use of open repair in a 46-year-old man who had these multiple abnormalities.

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Miladi-Abdennadher, Imen, Rania Abdelmaksoud-Damak, Lobna Ayadi, Abdelmajid Khabir, Foued Frikha, Lamia Kallel, Mounir Frikha, Tahia Sellami-Boudawara, Ali Gargouri, and Raja Mokdad-Gargouri. "Aberrant methylation of hMLH1 and p16INK4a in Tunisian patients with sporadic colorectal adenocarcinoma." Bioscience Reports 31, no. 4 (March 2, 2011): 257–64. http://dx.doi.org/10.1042/bsr20100023.

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The methylation of CpG islands in the promoters is associated with loss of protein via repression of gene transcription. Several studies have demonstrated that tumour suppressor and DNA repair genes are often aberrantly hypermethylated in colorectal cancer. The present study was conducted to examine whether the methylation profile of p16INK4a and hMLH1 (human mutL homologue 1) promoters was associated with clinical features and patients’ survival in CRC (colorectal carcinoma). Aberrant methylation of p16INK4a and hMLH1 promoters was found in 47.2 and 53.4% of tumours respectively. For adjacent non-tumoral mucosa, p16INK4a was fully unmethylated in 30% of the cases, whereas hMLH1 was predominantly unmethylated (76%). Methylation of p16INK4a correlated with gender and tumour size (P=0.005 and 0.035 respectively), whereas those of hMLH1 significantly correlated with overall survival (P log rank = 0.007). Concomitant methylation of p16INK4a and hMLH1 was associated with TNM (tumour, lymph node and metastases) stage and tumour size (P=0.024 and 0.021 respectively). Our data show that loss of hMLH1 expression through aberrant methylation could be used as a marker of poor prognosis in CRC.

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Yu, Xin, and Abram Gabriel. "Ku-Dependent and Ku-Independent End-Joining Pathways Lead to Chromosomal Rearrangements During Double-Strand Break Repair inSaccharomyces cerevisiae." Genetics 163, no. 3 (March 1, 2003): 843–56. http://dx.doi.org/10.1093/genetics/163.3.843.

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AbstractChromosomal double-strand breaks (DSBs) can be repaired by either homology-dependent or homology-independent pathways. Nonhomologous repair mechanisms have been relatively less well studied, despite their potential importance in generating chromosomal rearrangements. We have developed a Saccharomyces cerevisiae-based assay to identify and characterize homology-independent chromosomal rearrangements associated with repair of a unique DSB generated within an engineered URA3 gene. Approximately 1% of successfully repaired cells have accompanying chromosomal rearrangements consisting of large insertions, deletions, aberrant gene conversions, or other more complex changes. We have analyzed rearrangements in isogenic wild-type, rad52, yku80, and rad52 yku80 strains, to determine the types of events that occur in the presence or absence of these key repair proteins. Deletions were found in all strain backgrounds, but insertions were dependent upon the presence of Yku80p. A rare RAD52- and YKU80-independent form of deletion was present in all strains. These events were characterized by long one-sided deletions (up to 13 kb) and extensive imperfect overlapping sequences (7-22 bp) at the junctions. Our results demonstrate that the frequency and types of repair events depend on the specific genetic context. This approach can be applied to a number of problems associated with chromosome stability.

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