Search
Results: 10
A battle for transmission
The mitochondrial genome is an evolutionarily persistent and cooperative component of metazoan cells that contributes to energy production and many other cellular processes. Despite sharing the same host as the nuclear genome...
Cell reprogramming shapes the mitochondrial DNA landscape.
Individual induced pluripotent stem cells (iPSCs) show considerable phenotypic heterogeneity, but the reasons for this are not fully understood. Comprehensively analysing the mitochondrial genome (mtDNA) in 146 iPSC and...
Cell reprogramming shapes the mitochondrial DNA landscape.
Individual induced pluripotent stem cells (iPSCs) show considerable phenotypic heterogeneity, but the reasons for this are not fully understood. Comprehensively analysing the mitochondrial genome (mtDNA) in 146 iPSC and...
FIBROBLASTS Humans DNA Mitochondrial Gene Expression Mutation Adult Aged Middle Aged Female Male Genome Mitochondrial Young Adult Induced Pluripotent Stem Cells Cellular Reprogramming Cellular Senescence heteroplasmy
Published by: Nature Communications
MitoPhen database
Thiloka E Ratnaike, Daniel Greene, Wei Wei, Alba Sanchis-Juan, Katherine R Schon, Jelle van den Ameele, Lucy Raymond, Rita Horvath, Ernest Turro, Patrick F Chinnery
Aug 09, 2021
Diagnosing mitochondrial disorders remains challenging. This is partly because the clinical phenotypes of patients overlap with those of other sporadic and inherited disorders. Although the widespread availability of genetic...
Mitochondrial DNA heteroplasmy in cardiac tissue from individuals with and without coronary artery disease
The cellular environment associated with coronary artery disease (CAD) can lead to mitochondrial DNA (mtDNA) damage. Mitochondrial variants in some copies of mtDNA (heteroplasmy) and mtDNA content are potential genetic...
Coronary Artery Disease Mitochondrial DNA heteroplasmy mitochondrial variation Mitochondria Cardiovascular Diseases Genetic Structures
Published by: Harrisburg University of Science and Technology
Mitochondrial heteroplasmy in vertebrates using ChIP-sequencing data.
BACKGROUND: Mitochondrial heteroplasmy, the presence of more than one mitochondrial DNA (mtDNA) variant in a cell or individual, is not as uncommon as previously thought. It is mostly due to the high mutation rate of the mtDNA...
Chromatin immunoprecipitation sequencing (ChIP-seq) heteroplasmy Mitochondrion Vertebrates mitochondrial DNA (mtDNA) Animals Chromatin Immunoprecipitation DNA Mitochondrial evolution Molecular High-Throughput Nucleotide Sequencing Humans Mitochondria Mitochondrial Diseases Sequence Analysis DNA Vertebrates
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Yi Shiau Ng, Nichola Z Lax, Paul Maddison, Charlotte L Alston, Emma L Blakely, Philippa D Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A Morris, Smaragda Kamakari, Georgia Chrousos, Richard J Rodenburg, Christiaan GJ Saris, Catherine Feeney, Steven A Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G Hanna, Akira Ohtake, Andrew M Schaefer, Mike P Champion, Doug M Turnbull, Robert W Taylor, Robert DS Pitceathly, Robert McFarland, Gráinne S Gorman
Oct 10, 2018
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and...
heteroplasmy Lactic acidosis and stroke-like episodes (MELAS) Leigh syndrome (LS) Mitochondrial DNA Mitochondrial encephalomyopathy neuropathology Adolescent Adult Brain Child Cohort Studies Electron Transport Complex I Female Humans Magnetic Resonance Imaging Male Mitochondrial Proteins Mutation Syndrome Young Adult
Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration.
Yu Nie, Alexander Murley, Zoe Golder, James B Rowe, Kieren Allinson, Patrick F Chinnery
Jun 07, 2022
Frontotemporal lobar degeneration (FTLD) is a common cause of young onset dementia and is characterised by focal neuropathology. The reasons for the regional neuronal vulnerability are not known. Mitochondrial mechanisms have...