Bibliografias temáticas / MtDNA editing

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Literatura científica selecionada sobre o tema "MtDNA editing"

Autor: Grafiati

Publicado: 29 de março de 2025

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Artigos de revistas sobre o assunto "MtDNA editing"

Jo, Areum, Sangwoo Ham, Gum Hwa Lee, Yun-Il Lee, SangSeong Kim, Yun-Song Lee, Joo-Ho Shin e Yunjong Lee. "Efficient Mitochondrial Genome Editing by CRISPR/Cas9". BioMed Research International 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/305716.

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The Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 system has been widely used for nuclear DNA editing to generate mutations or correct specific disease alleles. Despite its flexible application, it has not been determined if CRISPR/Cas9, originally identified as a bacterial defense system against virus, can be targeted to mitochondria for mtDNA editing. Here, we show that regular FLAG-Cas9 can localize to mitochondria to edit mitochondrial DNA with sgRNAs targeting specific loci of the mitochondrial genome. Expression of FLAG-Cas9 together with gRNA targeting Cox1 and Cox3 leads to cleavage of the specific mtDNA loci. In addition, we observed disruption of mitochondrial protein homeostasis following mtDNA truncation or cleavage by CRISPR/Cas9. To overcome nonspecific distribution of FLAG-Cas9, we also created a mitochondria-targeted Cas9 (mitoCas9). This new version of Cas9 localizes only to mitochondria; together with expression of gRNA targeting mtDNA, there is specific cleavage of mtDNA. MitoCas9-induced reduction of mtDNA and its transcription leads to mitochondrial membrane potential disruption and cell growth inhibition. This mitoCas9 could be applied to edit mtDNA together with gRNA expression vectors without affecting genomic DNA. In this brief study, we demonstrate that mtDNA editing is possible using CRISPR/Cas9. Moreover, our development of mitoCas9 with specific localization to the mitochondria should facilitate its application for mitochondrial genome editing.

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Best, Corinne, Ron Mizrahi e Oren Ostersetzer-Biran. "Why so Complex? The Intricacy of Genome Structure and Gene Expression, Associated with Angiosperm Mitochondria, May Relate to the Regulation of Embryo Quiescence or Dormancy—Intrinsic Blocks to Early Plant Life". Plants 9, n.º 5 (8 de maio de 2020): 598. http://dx.doi.org/10.3390/plants9050598.

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Mitochondria play key roles in cellular-energy metabolism and are vital for plant-life, such as for successful germination and early-seedling establishment. Most mitochondria contain their own genetic system (mtDNA, mitogenome), with an intrinsic protein-synthesis machinery. Although the challenges of maintaining prokaryotic-type structures and functions are common to Eukarya, land plants possess some of the most complex organelle composition of all known organisms. Angiosperms mtDNAs are characteristically the largest and least gene-dense among the eukaryotes. They often contain highly-variable intergenic regions of endogenous or foreign origins and undergo frequent recombination events, which result in different mtDNA configurations, even between closely-related species. The expression of the mitogenome in angiosperms involves extensive mtRNA processing steps, including numerous editing and splicing events. Why do land-plant’s mitochondria have to be so complex? The answer to this remains a matter of speculation. We propose that this complexity may have arisen throughout the terrestrialization of plants, as a means to control embryonic mitochondrial functions —a critical adaptive trait to optimize seed germination. The unique characteristics of plant mtDNA may play pivotal roles in the nuclear-regulation of organellar biogenesis and metabolism, possibly to control embryos quiescence or dormancy, essential determinants for the establishment of viable plantlets that can survive post-germination.

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Yamada, Mitsutoshi, Kazuhiro Akashi, Reina Ooka, Kenji Miyado e Hidenori Akutsu. "Mitochondrial Genetic Drift after Nuclear Transfer in Oocytes". International Journal of Molecular Sciences 21, n.º 16 (16 de agosto de 2020): 5880. http://dx.doi.org/10.3390/ijms21165880.

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Mitochondria are energy-producing intracellular organelles containing their own genetic material in the form of mitochondrial DNA (mtDNA), which codes for proteins and RNAs essential for mitochondrial function. Some mtDNA mutations can cause mitochondria-related diseases. Mitochondrial diseases are a heterogeneous group of inherited disorders with no cure, in which mutated mtDNA is passed from mothers to offspring via maternal egg cytoplasm. Mitochondrial replacement (MR) is a genome transfer technology in which mtDNA carrying disease-related mutations is replaced by presumably disease-free mtDNA. This therapy aims at preventing the transmission of known disease-causing mitochondria to the next generation. Here, a proof of concept for the specific removal or editing of mtDNA disease-related mutations by genome editing is introduced. Although the amount of mtDNA carryover introduced into human oocytes during nuclear transfer is low, the safety of mtDNA heteroplasmy remains a concern. This is particularly true regarding donor-recipient mtDNA mismatch (mtDNA–mtDNA), mtDNA-nuclear DNA (nDNA) mismatch caused by mixing recipient nDNA with donor mtDNA, and mtDNA replicative segregation. These conditions can lead to mtDNA genetic drift and reversion to the original genotype. In this review, we address the current state of knowledge regarding nuclear transplantation for preventing the inheritance of mitochondrial diseases.

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de Oliveira, Vanessa Cristina, Kelly Cristine Santos Roballo, Clésio Gomes Mariano Junior, Sarah Ingrid Pinto Santos, Fabiana Fernandes Bressan, Marcos Roberto Chiaratti, Elena J. Tucker, Erica E. Davis, Jean-Paul Concordet e Carlos Eduardo Ambrósio. "HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation". Life 12, n.º 1 (24 de dezembro de 2021): 22. http://dx.doi.org/10.3390/life12010022.

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The mitochondrial transcription factor A (TFAM) is considered a key factor in mitochondrial DNA (mtDNA) copy number. Given that the regulation of active copies of mtDNA is still not fully understood, we investigated the effects of CRISPR-Cas9 gene editing of TFAM in human embryonic kidney (HEK) 293T cells on mtDNA copy number. The aim of this study was to generate a new in vitro model by CRISPR-Cas9 system by editing the TFAM locus in HEK293T cells. Among the resulting single-cell clones, seven had high mutation rates (67–96%) and showed a decrease in mtDNA copy number compared to control. Cell staining with Mitotracker Red showed a reduction in fluorescence in the edited cells compared to the non-edited cells. Our findings suggest that the mtDNA copy number is directly related to TFAM control and its disruption results in interference with mitochondrial stability and maintenance.

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Zheng, Yang. "Application and Challenge of CRISPR System to Mitochondrial Genetic Disorders". Highlights in Science, Engineering and Technology 91 (15 de abril de 2024): 289–98. http://dx.doi.org/10.54097/n26n2410.

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A distinct class of genetic illnesses known as mitochondrial genetic disorders is brought on by genetic mutations in the mitochondrial DNA. The lowest prevalence of mtDNA mutations is 1 in 5,000, leading to mitochondrial genetic disorders for which there are yet no economical diagnostic methods or therapeutic interventions. The CRISPR system is an immune defense system of prokaryotes that can recognize and cut foreign DNA, inhibit the expression of foreign genes, and fend off viral interference. It is because of its precise targeting ability that the CRISPR/Cas system has been transformed into a highly effective gene editing technique. Future treatments for mitochondrial illnesses may benefit from the CRISPR system, as well as the successful development of mitochondrial gene editing instruments. By referring to both domestic and international literature, this paper introduces Crispr/Cas technology and mitochondrial genes, summarizes specific cases of CRISPR system applied to mitochondrial gene, and focuses on the technical limitations of Crispr system for mtDNA modification. There is also discussion of the application prospect of CRISPR system in mtDNA modification. At present, it is found that the main challenge impeding the advancement of mtDNA editing technology within the CRISPR system is the technology for gRNA to gain entry into the mitochondria.

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Klucnika, Anna, e Hansong Ma. "Mapping and editing animal mitochondrial genomes: can we overcome the challenges?" Philosophical Transactions of the Royal Society B: Biological Sciences 375, n.º 1790 (2 de dezembro de 2019): 20190187. http://dx.doi.org/10.1098/rstb.2019.0187.

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The animal mitochondrial genome, although small, can have a big impact on health and disease. Non-pathogenic sequence variation among mitochondrial DNA (mtDNA) haplotypes influences traits including fertility, healthspan and lifespan, whereas pathogenic mutations are linked to incurable mitochondrial diseases and other complex conditions like ageing, diabetes, cancer and neurodegeneration. However, we know very little about how mtDNA genetic variation contributes to phenotypic differences. Infrequent recombination, the multicopy nature and nucleic acid-impenetrable membranes present significant challenges that hamper our ability to precisely map mtDNA variants responsible for traits, and to genetically modify mtDNA so that we can isolate specific mutants and characterize their biochemical and physiological consequences. Here, we summarize the past struggles and efforts in developing systems to map and edit mtDNA. We also assess the future of performing forward and reverse genetic studies on animal mitochondrial genomes. This article is part of the theme issue ‘Linking the mitochondrial genotype to phenotype: a complex endeavour’.

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Herbert, Mary. "Genome Editing Tools to Increase the Efficacy of Mitochondrial Donation". Fertility & Reproduction 05, n.º 04 (dezembro de 2023): 259. http://dx.doi.org/10.1142/s2661318223740730.

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Mitochondrial donation (MD) aims to prevent transmission of mtDNA disease by transplanting the nuclear genome from an affected woman’s egg to an enucleated egg from an unaffected donor. The nuclear DNA is transplanted in a karyoplast, which upon fusion with the enucleated donor egg, introduces a small amount of perinuclear mitochondria resulting in heteroplasmy for maternal mtDNA. Under optimal conditions, this accounts for <2% of the mtDNA content of MD embryos. Despite this, [Formula: see text]20% of embryonic stem (ES) cell lines derived from MD embryos exhibit complete reversion to the maternal mitochondrial genome and elevated levels (40–60%) have recently been reported in a baby born following MD treatment for infertility. Thus, currently available MR treatments are regarded as risk reduction, rather than prevention strategies. A major focus of our ongoing research is to bridge this gap by developing techniques to minimise maternal mtDNA in MD embryos. I will present our recent findings from these investigations.

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Zhong, Gang, Henning Madry e Magali Cucchiarini. "Mitochondrial Genome Editing to Treat Human Osteoarthritis—A Narrative Review". International Journal of Molecular Sciences 23, n.º 3 (27 de janeiro de 2022): 1467. http://dx.doi.org/10.3390/ijms23031467.

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Osteoarthritis (OA) is a severe, common chronic orthopaedic disorder characterised by a degradation of the articular cartilage with an incidence that increases over years. Despite the availability of various clinical options, none can stop the irreversible progression of the disease to definitely cure OA. Various mutations have been evidenced in the mitochondrial DNA (mtDNA) of cartilage cells (chondrocytes) in OA, leading to a dysfunction of the mitochondrial oxidative phosphorylation processes that significantly contributes to OA cartilage degeneration. The mitochondrial genome, therefore, represents a central, attractive target for therapy in OA, especially using genome editing procedures. In this narrative review article, we present and discuss the current advances and breakthroughs in mitochondrial genome editing as a potential, novel treatment to overcome mtDNA-related disorders such as OA. While still in its infancy and despite a number of challenges that need to be addressed (barriers to effective and site-specific mtDNA editing and repair), such a strategy has strong value to treat human OA in the future, especially using the groundbreaking clustered regularly interspaced short palindromic repeats (CRIPSR)/CRISPR-associated 9 (CRISPR/Cas9) technology and mitochondrial transplantation approaches.

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Moraes, Carlos T. "Tools for editing the mammalian mitochondrial genome". Human Molecular Genetics 33, R1 (22 de maio de 2024): R92—R99. http://dx.doi.org/10.1093/hmg/ddae037.

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Abstract The manipulation of animal mitochondrial genomes has long been a challenge due to the lack of an effective transformation method. With the discovery of specific gene editing enzymes, designed to target pathogenic mitochondrial DNA mutations (often heteroplasmic), the selective removal or modification of mutant variants has become a reality. Because mitochondria cannot efficiently import RNAs, CRISPR has not been the first choice for editing mitochondrial genes. However, the last few years witnessed an explosion in novel and optimized non-CRISPR approaches to promote double-strand breaks or base-edit of mtDNA in vivo. Engineered forms of specific nucleases and cytidine/adenine deaminases form the basis for these techniques. I will review the newest developments that constitute the current toolbox for animal mtDNA gene editing in vivo, bringing these approaches not only to the exploration of mitochondrial function, but also closer to clinical use.

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Moreira, Jesse D., Deepa M. Gopal, Darrell N. Kotton e Jessica L. Fetterman. "Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?" Genes 12, n.º 11 (22 de outubro de 2021): 1668. http://dx.doi.org/10.3390/genes12111668.

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Mitochondria are specialized organelles involved in energy production that have retained their own genome throughout evolutionary history. The mitochondrial genome (mtDNA) is maternally inherited and requires coordinated regulation with nuclear genes to produce functional enzyme complexes that drive energy production. Each mitochondrion contains 5–10 copies of mtDNA and consequently, each cell has several hundreds to thousands of mtDNAs. Due to the presence of multiple copies of mtDNA in a mitochondrion, mtDNAs with different variants may co-exist, a condition called heteroplasmy. Heteroplasmic variants can be clonally expanded, even in post-mitotic cells, as replication of mtDNA is not tied to the cell-division cycle. Heteroplasmic variants can also segregate during germ cell formation, underlying the inheritance of some mitochondrial mutations. Moreover, the uneven segregation of heteroplasmic variants is thought to underlie the heterogeneity of mitochondrial variation across adult tissues and resultant differences in the clinical presentation of mitochondrial disease. Until recently, however, the mechanisms mediating the relation between mitochondrial genetic variation and disease remained a mystery, largely due to difficulties in modeling human mitochondrial genetic variation and diseases. The advent of induced pluripotent stem cells (iPSCs) and targeted gene editing of the nuclear, and more recently mitochondrial, genomes now provides the ability to dissect how genetic variation in mitochondrial genes alter cellular function across a variety of human tissue types. This review will examine the origins of mitochondrial heteroplasmic variation and propagation, and the tools used to model mitochondrial genetic diseases. Additionally, we discuss how iPSC technologies represent an opportunity to advance our understanding of human mitochondrial genetics in disease.

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Mais fontes

Teses / dissertações sobre o assunto "MtDNA editing"

Robinson, Jason M. "Functional Significance of mtDNA Cytosine Modification Tested by Genome Editing". VCU Scholars Compass, 2016. http://scholarscompass.vcu.edu/etd/4561.

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The field of epigenetics is gaining popularity and speed, due in part to its capability to answer lingering questions about the root cause of certain diseases. Epigenetics plays a crucial role in regulation of the cell and cell survival, particularly by cytosine methylation. It remains controversial if DNMT’s which facilitate methylation are present in mammalian mitochondria and what the functional significance they may have on modification of mitochondrial DNA. CRISPR-Cas9 technology enabled genome editing to remove the MTS (mitochondrial targeting sequence) from DNMT1 of HCT116 cells, purposefully minimizing effects on nuclear cytosine methylation, while exclusively impacting mitochondrial modification. Removal of the DNMT1 MTS did not completely prevent the localization of this enzyme to the mitochondria according to immunoblot analysis. As well, deletion of the MTS in DNMT1 revealed only a small decline in transcription; not until removal of DNMT3B did we see a two-fold decrease in transcription from mitochondrial protein coding genes. No significant decline in transcription occurred when a DNMT3B knockout also lost the MTS of DNMT1; this study is evidencing that DNMT3B is possibly the more significant methyltransferase in the mitochondria. Our aim from this study and future research is to clearly characterize which enzymes in the mitochondria are controlling cytosine modifications and to understand the mechanistic complexities that accompany cause and consequence of epigenetic modifications.

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Shebanov, Nikita. "Pathogenic mutations of the mitochondrial protein ND5 : the development of novel gene therapy strategies". Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ095.

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Les cellules humaines contiennent multiples copies d'ADNmt, qui code 37 gènes. L'ADNmt est sujet à des mutations qui peuvent conduire à des maladies affectant gravement les tissus ayant des besoins énergétiques élevés. Nous nous sommes concentrés sur deux mutations pathogènes du gène MT-ND5, 13513G>A et 13514A>G, qui altèrent Asp393, un résidu essentiel à la translocation des protons lors de la synthèse de l'ATP. Notre objectif était d'évaluer si la technologie CRISPR/Cas12a peut être appliquée à l'ADNmt humain. Nous avons démontré que les crRNA chimiquement modifiés améliorent la spécificité de Cas12a à des concentrations physiologiques de Mg²⁺. L'activité spécifique des éditeurs de bases mitochondriales fusionnés à AsCas12a ciblant les gènes ND4 et ND5 de l'ADNmt a été démontrée à la fois in vitro et, pour la première fois, dans les mitochondries de cellules HEK293 en culture. Nous avons également démontré que Cas12a et crRNA fusionnés étaient importés dans des mitochondries isolées, montrant le potentiel de la technologie crosslink pour améliorer l'adressage mitochondriale de crRNA
Human cells contain multiple copies of mtDNA, which encodes 37 genes. mtDNA is prone to mutations that can lead to diseases severely affecting tissues with high energy demands. We focused on two pathogenic mutations in the MT-ND5 gene,13513G>A and 13514A>G, that alter Asp393, a residue critical for proton translocation during ATP synthesis. Our aim was to evaluate whether CRISPR/Cas12a technology can be applied to human mtDNA. We demonstrated that chemically modified crRNAs improve the specificity of the Cas12a system under physiological levels of Mg²⁺. The specific activity of AsCas12a-fused mitochondrial base editors targeting the ND4 and ND5 genes of mtDNA was shown both in vitro and, for the first time, in the mitochondria of cultured HEK293 cells. We also demonstrated that crosslinked Cas12a and crRNA were imported into isolated mitochondria, showing the potential of crosslink technology in enhancing crRNA mitochondrial delivery

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Capítulos de livros sobre o assunto "MtDNA editing"

Bacman, Sandra R., e Carlos T. Moraes. "MitoTALENs for mtDNA editing". In The Human Mitochondrial Genome, 481–98. Elsevier, 2020. http://dx.doi.org/10.1016/b978-0-12-819656-4.00018-8.

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Tembe, Sanket. "Maneuvering Mitochondria for Better Understanding of Therapeutic Potential of mtDNA Mutation". In Mitochondrial Diseases [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.96915.

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Heterogeneity of mitochondrial diseases in terms of genetic etiology and clinical management makes their diagnosis challenging. Mitochondrial genome, basic mitochondrial genetics, common mutations, and their correlation with human diseases is well-established now and advances in sequencing is accelerating the molecular diagnostics of mitochondrial diseases. Major research focus now is on development of mtDNA intervention techniques like mtDNA gene editing, transfer of exogenous genes (sometimes even entire mtDNA) that would compensate for mtDNA mutations responsible for mitochondrial dysfunction. Although these genetic manipulation techniques have good potential for treatment of mtDNA diseases, research on such mitochondrial manipulation fosters ethical issues. The present chapter starts with an introduction to the factors that influence the clinical features of mitochondrial diseases. Advancement in treatments for mitochondrial diseases are then discussed followed by a note on methods for preventing transmission of these diseases.

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Naini, Ali, e Sara Shanske. "Detection of Mutations in mtDNA". In Mitochondria, 2nd Edition, 437–63. Elsevier, 2007. http://dx.doi.org/10.1016/s0091-679x(06)80022-1.

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Williams, Sion L., e Carlos T. Moraes. "Microdissection and Analytical PCR for the Investigation of mtDNA Lesions". In Mitochondria, 2nd Edition, 481–501. Elsevier, 2007. http://dx.doi.org/10.1016/s0091-679x(06)80024-5.

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"STR and mtDNA Decisions in United States Courts". In An Introduction to Forensic DNA Analysis, Second Edition. CRC Press, 2001. http://dx.doi.org/10.1201/9781420058505.axm.

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Shadel, Gerald S., e Bonnie L. Seidel‐Rogol. "Diagnostic Assays for Defects in mtDNA Replication and Transcription in Yeast and Humans". In Mitochondria, 2nd Edition, 465–79. Elsevier, 2007. http://dx.doi.org/10.1016/s0091-679x(06)80023-3.

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"Summary of STR and mtDNA Decisions in United States Courts". In An Introduction to Forensic DNA Analysis, Second Edition. CRC Press, 2001. http://dx.doi.org/10.1201/9781420058505.axk.

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