Cargando…

Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases

Mitochondrial DNA (mtDNA) is highly polymorphic at the population level, and specific mtDNA variants affect mitochondrial function. With emerging evidence that mitochondrial mechanisms are central to common human diseases, it is plausible that mtDNA variants contribute to the “missing heritability”...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hudson, Gavin, Gomez-Duran, Aurora, Wilson, Ian J., Chinnery, Patrick F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031051/ https://www.ncbi.nlm.nih.gov/pubmed/24852434 http://dx.doi.org/10.1371/journal.pgen.1004369

Ejemplares similares

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations
por: Wei, Wei, et al.
Publicado: (2017)

Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations
por: Wei, Wei, et al.
Publicado: (2018)

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
por: Connor, Thomas M., et al.
Publicado: (2017)

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
por: Elliott, Hannah R., et al.
Publicado: (2008)

Mitochondrial genetics
por: Chinnery, Patrick Francis, et al.
Publicado: (2013)

Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases
por: Chinnery, Patrick F., et al.
Publicado: (2018)

Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues
por: Bicci, Iacopo, et al.
Publicado: (2021)

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans
por: Pyle, Angela, et al.
Publicado: (2015)

Unique mitochondrial DNA in highly inbred feral cattle
por: Hudson, Gavin, et al.
Publicado: (2012)

Mitochondrial DNA and traumatic brain injury
por: Bulstrode, Harry, et al.
Publicado: (2014)

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
por: Griffin, Helen R., et al.
Publicado: (2014)

An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank
por: Yonova-Doing, Ekaterina, et al.
Publicado: (2021)

Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation
por: Xu, Xue-Bi, et al.
Publicado: (2019)

A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization
por: Lythgow, Kieren T., et al.
Publicado: (2011)

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
por: Hollingsworth, Kieren G., et al.
Publicado: (2012)

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases
por: Wei, W., et al.
Publicado: (2020)

The inheritance of pathogenic mitochondrial DNA mutations
por: Cree, L.M., et al.
Publicado: (2009)

OPA1 Mutation and Late-Onset Cardiomyopathy: Mitochondrial Dysfunction and mtDNA Instability
por: Chen, Le, et al.
Publicado: (2012)

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance
por: Sommerville, Ewen W., et al.
Publicado: (2019)

Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration
por: Nie, Yu, et al.
Publicado: (2022)

Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro
por: Pezet, Mikael G., et al.
Publicado: (2021)

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila
por: Andreazza, Simonetta, et al.
Publicado: (2019)

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
por: Gorman, Gráinne S., et al.
Publicado: (2015)

Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ
por: Widdrington, John D., et al.
Publicado: (2017)

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
por: Keogh, M. J., et al.
Publicado: (2015)

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
por: Payne, Brendan A I, et al.
Publicado: (2011)

Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA
por: Gardner, Kristian, et al.
Publicado: (2015)

MFN2 mutations cause compensatory mitochondrial DNA proliferation
por: Sitarz, Kamil S., et al.
Publicado: (2012)

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old()
por: Collerton, Joanna, et al.
Publicado: (2013)

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
por: Ronchi, Dario, et al.
Publicado: (2020)

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
por: Boczonadi, Veronika, et al.
Publicado: (2013)

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2014)

Universal heteroplasmy of human mitochondrial DNA
por: Payne, Brendan A.I., et al.
Publicado: (2013)

Visualizing, quantifying, and manipulating mitochondrial DNA in vivo
por: Prole, David L., et al.
Publicado: (2020)

Cell reprogramming shapes the mitochondrial DNA landscape
por: Wei, Wei, et al.
Publicado: (2021)

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck
por: Wilson, Ian J., et al.
Publicado: (2016)

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution
por: Santibanez-Koref, Mauro, et al.
Publicado: (2019)

Somatic mtDNA variation is an important component of Parkinson's disease
por: Coxhead, Jonathan, et al.
Publicado: (2016)

Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?
por: Samuels, David C., et al.
Publicado: (2013)

Late-onset neonatal sepsis: recent developments
por: Dong, Ying, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_ndcpvm07ma8rslap5o04qg3f3o