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Journal articles on the topic 'Syndrome progeroïde'

Author: Grafiati

Published: 25 May 2024

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1

De Barros, Paula Vitória Macêdo, Enrico Souza De Godoy, Lucas Rafael Ferreira Soares, and João Ricardo Mendes De Oliveira. "Searching for proper criteria to add new and rare conditions to the Progeroid Syndromes category." Brazilian Journal of Health Review 7, no. 1 (February 5, 2024): 4365–71. http://dx.doi.org/10.34119/bjhrv7n1-353.

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The progeroid syndromes represents a group of rare diseases that presents clinical aspects of physiological aging at early stages of life. These syndromes share many clinical features such as craniofacial features, skin, hair and nails alterations, neurodevelopment and motor disorders and premature-onset malignancies. Primrose syndrome is a rare autosomal dominant disorder caused by de novo heterozygous missense variants in ZBTB20 and exhibits as main clinical manifestations craniofacial features, intellectual disability, hypotonia, postnatal-onset macrocephaly, behavior abnormalities, progressive musculoskeletal and motor involvement and endocrine dysfunctions. Anchored in previous works that discussed the physiopathology and clinical spectrum of progeroid syndromes and also the molecular, genetic and clinical hallmarks of Primrose syndrome, this letter highlights the hypothesis that Primrose syndrome could be classified as a progeroid syndrome. This possibility might not only amplify our understanding of progeroid syndromes but also might have impact in the treatments available and offered to patients with rare diseases.

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2

Kungurtseva, A. L., and A. V. Vitebskaya. "Differential Diagnosis of Progeroid Neonatal Syndrome." Doctor.Ru 22, no. 7 (2023): 37–42. http://dx.doi.org/10.31550/1727-2378-2023-22-7-37-42.

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Aim. Аnalysis and synthesis of the literature data on the problem of differential diagnosis of neonatal progeroid syndrome. Key points. One of the rarest representatives of premature aging syndromes is neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome). It is an ultra-orphan disease with autosomal recessive type of inheritance, associated with a mutation in the POLR3A, POLR3B, POLR3GL genes and characterized by congenital lipodystrophy and premature aging. The disease manifests from the first days of life: low body length and weight at birth, pronounced phenotypic features (pseudohydrocephaly, progeroid facial features, generalized lipodystrophy, neonatal incisors). Severe bronchopulmonary and skeletal damage is seen over the course of life, and average life expectancy ranges from 7 months to 2 years but can reach 27 years. The differential diagnosis is made with Hutchinson–Gilford syndrome (progeria), which clinical signs manifest at 1.5-2 years of age, and with Marfan-progeroid lipodystrophy, Fontaine syndrome, and Sekkel syndrome. Conclusion. Early diagnostics is necessary for predicting the course of the disease, selection of treatment, and determining of further management. Keywords: neonatal progeroid syndrome, Wiedemann–Rautenstrauch syndrome, premature aging syndromes

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3

Golounina, Olga O., Valentin V. Fadeev, and Zhanna E. Belaya. "Hereditary syndromes with signs of premature aging." Osteoporosis and Bone Diseases 22, no. 3 (June 1, 2020): 4–18. http://dx.doi.org/10.14341/osteo12331.

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Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems. Progeroid syndromes (from Greek. progērōs prematurely old), or premature aging syndromes, represent clinically and genetically heterogeneous group of rare hereditary diseases characterized by accelerated aging of the body. Progeria and segmental progeroid syndromes include more than a dozen diseases, but the most clear signs of premature aging are evident in Hutchinson-Guilford Progeria Syndrome and Werner Syndrome. This review summarizes the latest scientific data reflecting the etiology and clinical picture of progeria and segmental progeroid syndromes in humans. Molecular mechanisms of aging are considered, using the example of progeroid syndromes. Modern possibilities and potential ways of influencing the mechanisms of the development of age-related changes are discussed. Further study of genetic causes, as well as the development of treatment for progeria and segmental progeroid syndromes, may be a promising direction for correcting age-related changes and increasing life expectancy.

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4

Rivera-Mulia, Juan Carlos, Romain Desprat, Claudia Trevilla-Garcia, Daniela Cornacchia, Hélène Schwerer, Takayo Sasaki, Jiao Sima, et al. "DNA replication timing alterations identify common markers between distinct progeroid diseases." Proceedings of the National Academy of Sciences 114, no. 51 (December 1, 2017): E10972—E10980. http://dx.doi.org/10.1073/pnas.1711613114.

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Progeroid syndromes are rare genetic disorders that phenotypically resemble natural aging. Different causal mutations have been identified, but no molecular alterations have been identified that are in common to these diseases. DNA replication timing (RT) is a robust cell type-specific epigenetic feature highly conserved in the same cell types from different individuals but altered in disease. Here, we characterized DNA RT program alterations in Hutchinson–Gilford progeria syndrome (HGPS) and Rothmund–Thomson syndrome (RTS) patients compared with natural aging and cellular senescence. Our results identified a progeroid-specific RT signature that is common to cells from three HGPS and three RTS patients and distinguishes them from healthy individuals across a wide range of ages. Among the RT abnormalities, we identified the tumor protein p63 gene (TP63) as a gene marker for progeroid syndromes. By using the redifferentiation of four patient-derived induced pluripotent stem cells as a model for the onset of progeroid syndromes, we tracked the progression of RT abnormalities during development, revealing altered RT of the TP63 gene as an early event in disease progression of both HGPS and RTS. Moreover, the RT abnormalities in progeroid patients were associated with altered isoform expression of TP63. Our findings demonstrate the value of RT studies to identify biomarkers not detected by other methods, reveal abnormal TP63 RT as an early event in progeroid disease progression, and suggest TP63 gene regulation as a potential therapeutic target.

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5

Osorio, Fernando G., Alejandro P. Ugalde, Guillermo Mariño, Xose S. Puente, José M. P. Freije, and Carlos López-Otín. "Cell autonomous and systemic factors in progeria development." Biochemical Society Transactions 39, no. 6 (November 21, 2011): 1710–14. http://dx.doi.org/10.1042/bst20110677.

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Progeroid laminopathies are accelerated aging syndromes caused by defects in nuclear envelope proteins. Accordingly, mutations in the LMNA gene and functionally related genes have been described to cause HGPS (Hutchinson–Gilford progeria syndrome), MAD (mandibuloacral dysplasia) or RD (restrictive dermopathy). Functional studies with animal and cellular models of these syndromes have facilitated the identification of the molecular alterations and regulatory pathways involved in progeria development. We have recently described a novel regulatory pathway involving miR-29 and p53 tumour suppressor which has provided valuable information on the molecular components orchestrating the response to nuclear damage stress. Furthermore, by using progeroid mice deficient in ZMPSTE24 (zinc metalloprotease STE24 homologue) involved in lamin A maturation, we have demonstrated that, besides these abnormal cellular responses to stress, dysregulation of the somatotropic axis is responsible for some of the alterations associated with progeria. Consistent with these observations, pharmacological restoration of the somatotroph axis in these mice delays the onset of their progeroid features, significantly extending their lifespan and supporting the importance of systemic alterations in progeria progression. Finally, we have very recently identified a novel progeroid syndrome with distinctive features from HGPS and MAD, which we have designated NGPS (Néstor–Guillermo progeria syndrome) (OMIM #614008). This disorder is caused by a mutation in BANF1, a gene encoding a protein with essential functions in the assembly of the nuclear envelope, further illustrating the importance of the nuclear lamina integrity for human health and providing additional support to the study of progeroid syndromes as a valuable source of information on human aging.

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6

De Menezes, Deborah Antunes, Amanda Ramos Caixeta, Isabella de Brito Alem Silva, Ana Luísa De Souza, Carolina Pessoa Rodrigues Ribeiro, Larissa Amorim Silva, Letícia Araújo Duarte, et al. "Síndrome Progeroide de Hutchinson-Gilford: Uma revisão integrativa / Hutchinson-Gilford Progeroid Syndrome: An Integrative Review." Brazilian Journal of Health Review 4, no. 5 (October 13, 2021): 21783–93. http://dx.doi.org/10.34119/bjhrv4n5-268.

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7

Giguet-Valard, Anna-Gaëlle, Astrid Monfort, Hugues Lucron, Helena Mosbah, Franck Boccara, Camille Vatier, Corinne Vigouroux, et al. "A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes." Cardiogenetics 13, no. 4 (September 26, 2023): 135–44. http://dx.doi.org/10.3390/cardiogenetics13040013.

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The likely pathogenic variant c.407A>T p.Asp136Val of the LMNA gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated with severe aortic valve stenosis. We further describe the cardiovascular involvement associated with the syndrome in her family. We identified seven members with a general presentation suggestive of progeroid syndrome. All of them presented heart conduction abnormalities: degenerative cardiac diseases such as coronary artery disease (two subjects) and aortic stenosis (three subjects) occurred in the 3rd–5th decade, and a young patient developed a severe dilated cardiomyopathy, leading to death at 15 years of age. The likely pathogenic variant was found in all the patients who consented to carry out the genetic test. This diverse family cardiologic phenotype emphasizes the complex molecular background at play in lamin-involved cardiac diseases, and the need for early and thorough cardiac evaluations in patients with laminopathic progeroid syndromes.

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Trani, Jean Philippe, Raphaël Chevalier, Leslie Caron, Claire El Yazidi, Natacha Broucqsault, Léa Toury, Morgane Thomas, et al. "Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging." Life Science Alliance 5, no. 12 (September 14, 2022): e202201501. http://dx.doi.org/10.26508/lsa.202201501.

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Progeroid syndromes are rare genetic diseases with most of autosomal dominant transmission, the prevalence of which is less than 1/10,000,000. These syndromes caused by mutations in the LMNA gene encoding A-type lamins belong to a group of disorders called laminopathies. Lamins are implicated in the architecture and function of the nucleus and chromatin. Patients affected with progeroid laminopathies display accelerated aging of mesenchymal stem cells (MSCs)–derived tissues associated with nuclear morphological abnormalities. To identify pathways altered in progeroid patients’ MSCs, we used induced pluripotent stem cells (hiPSCs) from patients affected with classical Hutchinson–Gilford progeria syndrome (HGPS, c.1824C>T—p.G608G), HGPS-like syndrome (HGPS-L; c.1868C>G—p.T623S) associated with farnesylated prelamin A accumulation, or atypical progeroid syndromes (APS; homozygous c.1583C> T—p.T528M; heterozygous c.1762T>C—p.C588R; compound heterozygous c.1583C>T and c.1619T>C—p.T528M and p.M540T) without progerin accumulation. By comparative analysis of the transcriptome and methylome of hiPSC-derived MSCs, we found that patient’s MSCs display specific DNA methylation patterns and modulated transcription at early stages of differentiation. We further explored selected biological processes deregulated in the presence of LMNA variants and confirmed alterations of age-related pathways during MSC differentiation. In particular, we report the presence of an altered mitochondrial pattern; an increased response to double-strand DNA damage; and telomere erosion in HGPS, HGPS-L, and APS MSCs, suggesting converging pathways, independent of progerin accumulation, but a distinct DNA methylation profile in HGPS and HGPS-L compared with APS cells.

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9

Martin, George M. "Genetic modulation of the senescent phenotype in Homo sapiens." Genome 31, no. 1 (January 1, 1989): 390–97. http://dx.doi.org/10.1139/g89-059.

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While it is important to search for unifying mechanisms of aging among a variety of model systems, evolutionary arguments suggest that the pathophysiological details of senescence may be, to some extent, species specific. Moreover, in species that are characterized by extensive genetic heterogeneity, such as our own, one is likely to find kindreds with both "private" and "public" markers of aging. Crude estimates of the number of loci with the potential to modulate aspects of the senescent phenotype of man suggest that thousands of genes could be involved. No single locus appears to modulate all features. Some affect predominately a single aspect ("unimodal progeroid syndromes"); familial Alzheimer's disease is discussed as a prototype. Linkage studies indicate genetic heterogeneity for autosomal dominant forms of the disease. Some loci affect multiple aspects of the phenotype ("segmental progeroid disorders"); the prototype is Werner's syndrome, an autosomal recessive. Cells from homozygotes behave like mutator strains and undergo accelerated senescence in vitro. Elucidation of the biochemical genetic basis of such abiotrophic disorders may shed light on specific aging processes in man.Key words: Homo sapiens, senescence, progeroid syndromes, Alzheimer's disease, linkage, Werner's syndrome, mutator strains.

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10

Graul-Neumann, L. M., K. Hoffmann, P. Robinson, and D. Horn. "Progeroide Variante eines Marfan-Syndroms." medizinische genetik 24, no. 4 (December 2012): 279–83. http://dx.doi.org/10.1007/s11825-012-0361-9.

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11

Mosbah, Héléna, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, et al. "Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice." Cells 9, no. 3 (March 20, 2020): 765. http://dx.doi.org/10.3390/cells9030765.

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Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle laminopathies, and arterial wall dysfunction and/or valvulopathy in lipodystrophic and/or progeroid laminopathies. We report unexpected cardiovascular phenotypes in patients with LMNA-associated lipodystrophies, illustrating the complex multitissular pathophysiology of the disease and the need for specific cardiovascular investigations in affected patients. A 33-year-old woman was diagnosed with generalized lipodystrophy and atypical progeroid syndrome due to the newly identified heterozygous LMNA p.(Asp136Val) variant. Her complex cardiovascular phenotype was associated with atherosclerosis, aortic valvular disease and left ventricular hypertrophy with rhythm and conduction defects. A 29-year-old woman presented with a partial lipodystrophy syndrome and a severe coronary atherosclerosis which required a triple coronary artery bypass grafting. She carried the novel heterozygous p.(Arg60Pro) LMNA variant inherited from her mother, affected with partial lipodystrophy and dilated cardiomyopathy. Different lipodystrophy-associated LMNA pathogenic variants could target cardiac vasculature and/or muscle, leading to complex overlapping phenotypes. Unifying pathophysiological hypotheses should be explored in several cell models including adipocytes, cardiomyocytes and vascular cells. Patients with LMNA-associated lipodystrophy should be systematically investigated with 24-h ECG monitoring, echocardiography and non-invasive coronary function testing.

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12

Kornak, U. "Progeroide autosomal-rezessive Cutis-laxa-Syndrome." medizinische genetik 24, no. 4 (December 2012): 273–78. http://dx.doi.org/10.1007/s11825-012-0353-9.

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13

Perrone, Serafina, Federica Lotti, Ursula Geronzi, Elisa Guidoni, Mariangela Longini, and Giuseppe Buonocore. "Oxidative Stress in Cancer-Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction." Oxidative Medicine and Cellular Longevity 2016 (2016): 1–7. http://dx.doi.org/10.1155/2016/4782426.

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Oxidative stress is a distinctive sign in several genetic disorders characterized by cancer predisposition, such as Ataxia-Telangiectasia, Fanconi Anemia, Down syndrome, progeroid syndromes, Beckwith-Wiedemann syndrome, and Costello syndrome. Recent literature unveiled new molecular mechanisms linking oxidative stress to the pathogenesis of these conditions, with particular regard to mitochondrial dysfunction. Since mitochondria are one of the major sites of ROS production as well as one of the major targets of their action, this dysfunction is thought to be the cause of the prooxidant status. Deeper insight of the pathogenesis of the syndromes raises the possibility to identify new possible therapeutic targets. In particular, the use of mitochondrial-targeted agents seems to be an appropriate clinical strategy in order to improve the quality of life and the life span of the patients.

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14

Li, Baomin, Sonali Jog, Jose Candelario, Sita Reddy, and Lucio Comai. "Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research." Scientific World JOURNAL 9 (2009): 1449–62. http://dx.doi.org/10.1100/tsw.2009.159.

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Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS) and Hutchinson-Gilford progeria syndrome (HGPS), and highlight functional connections to cellular processes that may contribute to normal aging.

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15

Gajaraj T, Naik. "Ocular manifestations in a case of progeroid syndrome." International Journal of Clinical and Experimental Ophthalmology 5, no. 2 (November 11, 2021): 025–28. http://dx.doi.org/10.29328/journal.ijceo.1001040.

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Progeria syndromes are very rare genetic diseases characterized by premature aging changes. There are several phenotypes and variables noted in literature in some cases difficult to specifically classify a specific syndrome. It occurs due to mutation in DNA repair genes. The most common ocular findings are loss of eyebrow and eyelashes, brow ptosis, lid margin changes, entropion, Meibomian gland dysfunction, severe dry eye, corneal opacity, cataract, poor mydriasis, and rod-cone dystrophy. We report this case with all the above ocular manifestations in 19year old teenager with additional finding being retinal detachment.

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Korzhenevskaya, М. А., S. V. Kashina, Т. L. Gindina, О. L. Romanova, V. А. Seredina, and S. А. Laptiev. "Morphological features of a patient with progeroid phenotype." Scientific Notes of the Pavlov University 30, no. 3 (September 13, 2023): 92–99. http://dx.doi.org/10.24884/1607-4181-2023-30-3-92-99.

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Currently, in medical genetics, there is a significant gap between real medical care and scientific achievements in the field of molecular biological technologies. The diagnosis of hereditary pathology is made infrequently, and genetic knowledge is slowly entering medical practice. Most patients with hereditary disorders are under completely different diagnoses and are treated by specialists according to the principle of the leading clinical symptom, such as, for example, mental retardation, skeletal deformities, ocular pathology, hearing loss, atrophic, ichthyosis-like or psoriasiform skin changes, etc. The clinic of hereditary diseases is often similar to well-known and frequently occurring diseases, since there is a phenotypic similarity of genetically heterogeneous diseases. Misdiagnosis leads to pathogenetically unjustified treatment. In our work, we described a clinical case of progeroid syndrome that confirmed by cytogenetic diagnostics based on the Pavlov University (Saint Petersburg, Russia). The patient has been observed with various dermatological syndromes for 26 years. With a multidisciplinary approach to the verification of hereditary disease, dermatovenerologists and geneticists were able to define the hereditary nature of the skin lesion in the patient and confirm her progeroid syndrome.

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Anitha, G. Fatima Shirly, V. Karthik Shanmugam, and V. Vignesh Rajendran. "A rare case of Ehler Danlos syndrome - Progeroid type: a case report." International Journal of Contemporary Pediatrics 4, no. 1 (December 21, 2016): 261. http://dx.doi.org/10.18203/2349-3291.ijcp20164614.

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Ehler Danlos syndrome (EDS), is a group of genetically heterogenous connective tissue disorder. A very rare type of this syndrome is the Progeroid type which is included in the NIH group of rare diseases list. The prevalence is < 1 / 1000000. Along with the usual clinical features, patients with Ehler Danlos syndrome-Progeroid type have old age appearance. Here we report one such rare case of this syndrome diagnosed in a 8 yr old child with characteristic clinical features and supportive genetic confirmation.

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Kunze, J., F. Majewski, Ph Montgomery, A. Hockey, I. Karkut, and Th Riebel. "De Barsy syndrome?an autosomal recessive, progeroid syndrome." European Journal of Pediatrics 144, no. 4 (November 1985): 348–54. http://dx.doi.org/10.1007/bf00441776.

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19

Shamanna, Raghavendra A., Deborah L. Croteau, Jong-Hyuk Lee, and Vilhelm A. Bohr. "Recent Advances in Understanding Werner Syndrome." F1000Research 6 (September 28, 2017): 1779. http://dx.doi.org/10.12688/f1000research.12110.1.

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Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Werner syndrome (WS), which is characterized by accelerated aging, is an autosomal-recessive genetic disorder. Hallmarks that define the aging process include genomic instability, telomere attrition, epigenetic alterations, loss of proteostasis, deregulation of nutrient sensing, mitochondrial dysfunction, cellular senescence, stem cell exhaustion, and altered intercellular communication. WS recapitulates these hallmarks of aging and shows increased incidence and early onset of specific cancers. Genome integrity and stability ensure the normal functioning of the cell and are mainly guarded by the DNA repair machinery and telomeres. WRN, being a RecQ helicase, protects genome stability by regulating DNA repair pathways and telomeres. Recent advances in WS research have elucidated WRN’s role in DNA repair pathway choice regulation, telomere maintenance, resolution of complex DNA structures, epigenetic regulation, and stem cell maintenance.

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20

Martin, George M., and Junko Oshima. "Lessons from human progeroid syndromes." Nature 408, no. 6809 (November 2000): 263–66. http://dx.doi.org/10.1038/35041705.

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Navarro, Claire L., Pierre Cau, and Nicolas Lévy. "Molecular bases of progeroid syndromes." Human Molecular Genetics 15, suppl_2 (October 15, 2006): R151—R161. http://dx.doi.org/10.1093/hmg/ddl214.

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22

BITOUN, P., E. LACHASSINE, N. SELLIER, S. SAUVION, and J. GAUDELUS. "The Wiedemann-Rautenstrauch neonatal progeroid syndrome." Clinical Dysmorphology 4, no. 3 (July 1995): 239???245. http://dx.doi.org/10.1097/00019605-199507000-00008.

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23

Hou, Jia-Woei. "Natural Course of Neonatal Progeroid Syndrome." Pediatrics & Neonatology 50, no. 3 (June 2009): 102–9. http://dx.doi.org/10.1016/s1875-9572(09)60044-9.

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Hou, Jia-Woei, and Tso-Ren Wang. "Clinical variability in neonatal progeroid syndrome." American Journal of Medical Genetics 58, no. 2 (August 28, 1995): 195–96. http://dx.doi.org/10.1002/ajmg.1320580219.

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25

Cheriathu, J., IE D'souza, LJ John, and R. El Bahtimi. "Progeroid Syndrome of De Barsy With Hypocalcemic Seizures." Journal of Nepal Paediatric Society 32, no. 2 (October 1, 2012): 175–77. http://dx.doi.org/10.3126/jnps.v32i2.5993.

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De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation-syndrome now commonly referred as ‘progerioid syndrome of de Barsy’. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among Afghani origin and also first case reported from United Arab Emirates, there have been no reported cases of hypocalcemic seizures. J Nepal Paediatr Soc 2012;32(2):175-177 doi: http://dx.doi.org/10.3126/jnps.v32i2.5993

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JANG, KYOUNG-AE, MAN-HEUI HAN, JEE-HO CHOI, KYUNG-JEH SUNG, KEE-CHAN MOON, and JAI-KYOUNG KOH. "PROGEROTD SYNDROME: ASSOCIATION WITH CONNECTIVE TISSUE DISEASE?" Pediatric Dermatology 15, no. 6 (March 16, 2009): 487–89. http://dx.doi.org/10.1111/j.1525-1470.1998.tb01406.x.

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Ho, A., S. J. White, and J. E. Rasmussen. "Skeletal abnormalities of acrogeria, a progeroid syndrome." Skeletal Radiology 16, no. 6 (August 1987): 463–68. http://dx.doi.org/10.1007/bf00350541.

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Hagadorn, James I., William G. Wilson, W. Allen Hogge, Joseph H. Callicott, and Ernest F. Beale. "Neonatal progeroid syndrome: More than one disease?" American Journal of Medical Genetics 35, no. 1 (January 1990): 91–94. http://dx.doi.org/10.1002/ajmg.1320350117.

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Maezawa, Yoshiro, Minoru Takemoto, and Koutaro Yokote. "Diagnosis and Pathogenesis of Progeroid Syndromes." Nihon Naika Gakkai Zasshi 108, no. 1 (January 10, 2019): 124–30. http://dx.doi.org/10.2169/naika.108.124.

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Neveling, K., A. Bechtold, and H. Hoehn. "Genetic instability syndromes with progeroid features." Zeitschrift für Gerontologie und Geriatrie 40, no. 5 (October 2007): 339–48. http://dx.doi.org/10.1007/s00391-007-0483-x.

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Young, Stephen G., Margarita Meta, Shao H. Yang, and Loren G. Fong. "Prelamin A Farnesylation and Progeroid Syndromes." Journal of Biological Chemistry 281, no. 52 (November 7, 2006): 39741–45. http://dx.doi.org/10.1074/jbc.r600033200.

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Chakravarthi, D. P. Kalyana, Yalampati Rama Kishore, and M. Naveen Kumar. "Progeroid Syndrome with Mitral Regurgitation: A Rare Case Report." Indian Journal of Cardiovascular Disease in Women WINCARS 5, no. 02 (June 2020): 117–22. http://dx.doi.org/10.1055/s-0040-1713689.

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AbstractProgeroid syndromes (PS) involve the disorder of early aging. Although survival of progeria syndrome patients is nearly 15 years as per literature, the adult onset progeroid starts manifesting in the third decade. Here, we are presenting a rare case of progeroid at the age of 45 years with mitral regurgitation (MR). The patient has alopecia, dry skin, frontal bossing, up staring eyes with bilateral corneal opacities, prominent nose with parrot beak appearance, thin upper lip, large, low-set ears, periorbital hyperpigmentation, micrognathia, retrognathia, and hyperpigmentation over lower abdomen/both feet and hands. Facial and skeletal manifestation are the major clinical features of the PS; along with the characteristics mentioned above, the patient also had severe eccentric MR. This patient has PS with mitral valve prolapse and severe MR. Most of the features of progeria exist in this patient, which manifested at a younger age. However, the progression of the external features and survival up to 45 years favors PS instead of progeria. Therefore, genetic analysis is mandatory to confirm. We are reporting this case due to the rarity of onset of symptoms within a younger age group; however, the progression of the disease was very slow, which may be a another variant of progeria/PS.

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Orioli, Donata, and Elena Dellambra. "Epigenetic Regulation of Skin Cells in Natural Aging and Premature Aging Diseases." Cells 7, no. 12 (December 12, 2018): 268. http://dx.doi.org/10.3390/cells7120268.

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Skin undergoes continuous renewal throughout an individual’s lifetime relying on stem cell functionality. However, a decline of the skin regenerative potential occurs with age. The accumulation of senescent cells over time probably reduces tissue regeneration and contributes to skin aging. Keratinocytes and dermal fibroblasts undergo senescence in response to several intrinsic or extrinsic stresses, including telomere shortening, overproduction of reactive oxygen species, diet, and sunlight exposure. Epigenetic mechanisms directly regulate skin homeostasis and regeneration, but they also mark cell senescence and the natural and pathological aging processes. Progeroid syndromes represent a group of clinical and genetically heterogeneous pathologies characterized by the accelerated aging of various tissues and organs, including skin. Skin cells from progeroid patients display molecular hallmarks that mimic those associated with naturally occurring aging. Thus, investigations on progeroid syndromes strongly contribute to disclose the causal mechanisms that underlie the aging process. In the present review, we discuss the role of epigenetic pathways in skin cell regulation during physiologic and premature aging.

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He, Xiaoning, Joanna M. Bridger, and Ian R. Kill. "Too old, too soon: Hutchinson–Gilford progeria syndrome." Biochemist 30, no. 5 (October 1, 2008): 18–22. http://dx.doi.org/10.1042/bio03005018.

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Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease that is characterized by precocious aging in infants and always leads to early death from heart attacks or strokes at a mean age of around 13–14 years. The premature aging is manifest through cutaneous changes resembling normal aged skin, alopecia (hair loss), lipodystrophy, skeletal changes (coxa valga and low bone mineral density, although this may not be due to osteoporosis as in normal aging, but rather a failure to properly develop bone throughout infancy) and intense atherosclerosis. Other changes commonly associated with aging are absent, such as cataracts and diabetes mellitus, and there are no reported problems with cognition or CNS neurology1. Thus HGPS belongs to the small group of genetic disorders called the segmental progeroid syndromes (Figure 1).

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Arboleda, Gonzalo, Luis Carlos Morales, Luis Quintero, and Humberto Arboleda. "Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): Report of three affected sibs." American Journal of Medical Genetics Part A 155, no. 7 (June 10, 2011): 1712–15. http://dx.doi.org/10.1002/ajmg.a.34019.

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Hutchison, Christopher J. "The role of DNA damage in laminopathy progeroid syndromes." Biochemical Society Transactions 39, no. 6 (November 21, 2011): 1715–18. http://dx.doi.org/10.1042/bst20110700.

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Progeroid laminopathies are characterized by the abnormal processing of lamin A, the appearance of misshapen nuclei, and the accumulation and persistence of DNA damage. In the present article, I consider the contribution of defective DNA damage pathways to the pathology of progeroid laminopathies. Defects in DNA repair pathways appear to be caused by a combination of factors. These include abnormal epigenetic modifications of chromatin that are required to recruit DNA repair pathways to sites of DNA damage, abnormal recruitment of DNA excision repair proteins to sites of DNA double-strand breaks, and unrepairable ROS (reactive oxygen species)-induced DNA damage. At least two of these defective processes offer the potential for novel therapeutic approaches.

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Passarge, Eberhard, Peter N. Robinson, and Luitgard M. Graul-Neumann. "Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy." European Journal of Human Genetics 24, no. 9 (February 10, 2016): 1244–47. http://dx.doi.org/10.1038/ejhg.2016.6.

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Iglesias Bolaños, Paloma, Guadalupe Guijarro de Armas, Soraya Civantos Modino, Belen Vega Piñero, Isabel Pavón de Paz, and Susana Monereo Megías. "Complicated Osteoporosis in Progeroid Syndrome: Treatment With Teriparatide." Journal of Clinical Densitometry 15, no. 1 (January 2012): 116–19. http://dx.doi.org/10.1016/j.jocd.2011.10.001.

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Ohashi, Hirofumi, Tsuyako Eguchi, and Tadashi Kajii. "Neonatal progeroid syndrome: Report of a Japanese infant." Japanese journal of human genetics 32, no. 3 (September 1987): 253–56. http://dx.doi.org/10.1007/bf01876880.

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Mégarbané, André, and Jacques Loiselet. "Clinical manifestation of a severe neonatal progeroid syndrome." Clinical Genetics 51, no. 3 (June 28, 2008): 200–204. http://dx.doi.org/10.1111/j.1399-0004.1997.tb02453.x.

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Jang, KA, MH Han, JH Choi, KJ Sung, KC Moon, and JK Koh. "Progeroid syndrome: association with connective tissue disease? [letter]." Pediatric Dermatology 15, no. 6 (November 1998): 487–89. http://dx.doi.org/10.1046/j.1525-1470.1998.1998015487.x.

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Rudin, C., L. Thommen, C. Fliegel, B. Steinmann, and U. B�hler. "The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch)." European Journal of Pediatrics 147, no. 4 (May 1988): 433–38. http://dx.doi.org/10.1007/bf00496430.

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Ruijs, M. W. G., R. N. J. van Andel, J. Oshima, K. Madan, A. W. M. Nieuwint, and C. M. Aalfs. "Atypical progeroid syndrome: An unknown helicase gene defect?" American Journal of Medical Genetics 116A, no. 3 (December 26, 2002): 295–99. http://dx.doi.org/10.1002/ajmg.a.10730.

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Leung, Diana L., Zuyun Liu, and Morgan E. Levine. "EPIGENETIC PROFILES OF BIOLOGICAL AGING HALLMARKS." Innovation in Aging 3, Supplement_1 (November 2019): S424. http://dx.doi.org/10.1093/geroni/igz038.1584.

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Abstract Investigation into the hallmarks of aging point to the existence of shared mechanisms that underlie the biological aging process. While there is a general consensus that hallmarks of aging rarely occur in isolation, little is known in regards to their overlapping networks or how interactions contribute to manifestations at the clinical level. Here, we examine whether shared epigenetic alterations—one of the proposed hallmark of aging—underlies diverse conditions characterized by other hallmarks, including cellular senescence, loss of proteostasis, genomic instability, mitochondrial dysfunction, and inflammation. Using weighted network analysis, we identified consistent overlaps in the methylation profiles across the different traits. For instance, epigenetic modules that were distinct in senescence were also affected in progeroid syndromes (Hutchinson-Gilford Progeria Syndrome and Werner’s Syndrome) and smokers. These CpGs tended to be located in CpG islands, which are notable for their strong association with transcriptional regulation. Overall, our results suggest that epigenetic alterations intersect with various hallmarks of aging. In moving forward, incorporation of this understanding may lead to the development of biomarkers that better capture the biological (rather than chronological) aging process.

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Kumahara, Yuichi. "Mechanism in normal aging and progeroid syndromes." Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics 25, no. 1 (1988): 1–6. http://dx.doi.org/10.3143/geriatrics.25.1.

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MIKI, Tetsuro, Atsuyuki MORISHIMA, and Jun NAKURA. "The Genes Responsible for Human Progeroid Syndromes." Internal Medicine 39, no. 4 (2000): 327–28. http://dx.doi.org/10.2169/internalmedicine.39.327.

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Bellantuono, I., G. Sanguinetti, and W. N. Keith. "Progeroid syndromes: models for stem cell aging?" Biogerontology 13, no. 1 (July 8, 2011): 63–75. http://dx.doi.org/10.1007/s10522-011-9347-2.

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Garg, Abhimanyu, Lalitha Subramanyam, Anil K. Agarwal, Vinaya Simha, Benjamin Levine, Maria Rosaria D'Apice, Giuseppe Novelli, and Yanick Crow. "Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations." Journal of Clinical Endocrinology & Metabolism 94, no. 12 (December 1, 2009): 4971–83. http://dx.doi.org/10.1210/jc.2009-0472.

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Context: Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia are well-recognized allelic autosomal dominant and recessive progeroid disorders, respectively, due to mutations in lamin A/C (LMNA) gene. Heterozygous LMNA mutations have also been reported in a small number of patients with a less well-characterized atypical progeroid syndrome (APS). Objective: The objective of the study was to investigate the underlying genetic and molecular basis of the phenotype of patients presenting with APS. Results: We report 11 patients with APS from nine families, many with novel heterozygous missense LMNA mutations, such as, P4R, E111K, D136H, E159K, and C588R. These and previously reported patients now reveal a spectrum of clinical features including progeroid manifestations such as short stature, beaked nose, premature graying, partial alopecia, high-pitched voice, skin atrophy over the hands and feet, partial and generalized lipodystrophy with metabolic complications, and skeletal anomalies such as mandibular hypoplasia and mild acroosteolysis. Skin fibroblasts from these patients when assessed for lamin A/C expression using epifluorescence microscopy revealed variable nuclear morphological abnormalities similar to those observed in patients with HGPS. However, these nuclear abnormalities in APS patients could not be rescued with 48 h treatment with farnesyl transferase inhibitors, geranylgeranyl transferase inhibitors or trichostatin-A, a histone deacetylase inhibitor. Immunoblots of cell lysates from fibroblasts did not reveal prelamin A accumulation in any of these patients. Conclusions: APS patients have a few overlapping but some distinct clinical features as compared with HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS patients seems not to be related to accumulation of mutant farnesylated prelamin A.

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Wang, Wei, Yuxuan Zheng, Shuhui Sun, Wei Li, Moshi Song, Qianzhao Ji, Zeming Wu, et al. "A genome-wide CRISPR-based screen identifies KAT7 as a driver of cellular senescence." Science Translational Medicine 13, no. 575 (January 6, 2021): eabd2655. http://dx.doi.org/10.1126/scitranslmed.abd2655.

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Understanding the genetic and epigenetic bases of cellular senescence is instrumental in developing interventions to slow aging. We performed genome-wide CRISPR-Cas9–based screens using two types of human mesenchymal precursor cells (hMPCs) exhibiting accelerated senescence. The hMPCs were derived from human embryonic stem cells carrying the pathogenic mutations that cause the accelerated aging diseases Werner syndrome and Hutchinson-Gilford progeria syndrome. Genes whose deficiency alleviated cellular senescence were identified, including KAT7, a histone acetyltransferase, which ranked as a top hit in both progeroid hMPC models. Inactivation of KAT7 decreased histone H3 lysine 14 acetylation, repressed p15INK4b transcription, and alleviated hMPC senescence. Moreover, lentiviral vectors encoding Cas9/sg-Kat7, given intravenously, alleviated hepatocyte senescence and liver aging and extended life span in physiologically aged mice as well as progeroid Zmpste24−/− mice that exhibit a premature aging phenotype. CRISPR-Cas9–based genetic screening is a robust method for systematically uncovering senescence genes such as KAT7, which may represent a therapeutic target for developing aging interventions.

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Alotaibi, Maha, Deema Aldhubaiban, Ahmed Alasmari, and Leena Alotaibi. "A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings." Journal of Clinical Research and Reports 9, no. 2 (October 26, 2021): 01–04. http://dx.doi.org/10.31579/2690-1919/207.

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Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB - golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin. That maps to chromosome 1q24. The encoded protein has a function in the secretory pathway. Was identified by-teIrminal kinase-like protein, and thus it may function in mitosis? Mutations in this gene have been associated with geroderma osteodysplastica. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. mutations, a homozygous Frameshift mutation (c.306dup p.(pro 103 Thrfs*20). Interestingly, phenotypic variability was observed in this patient with GO features that were atypical than the cases reported in the literature. As he looks tall stature where the most of cases reported were short and arachnodactyly of fingers which mimic and other syndromes.

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