Association of Mitochondrial DNA Copy Number With Cardiovascular Disease
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Cardiology"
DOI: 10.1001/jamacardio.2017.3683
Abstract: Importance Mitochondrial dysfunction is a core component of the aging process and may play a key role in atherosclerotic cardiovascular disease. Mitochondrial DNA copy number (mtDNA-CN), which represents the number of mitochondria per cell and… read more here.
Keywords: cardiology; disease; number; cvd ... See more keywords
Mitochondrial DNA mutations in ageing and cancer
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Oncology"
DOI: 10.1002/1878-0261.13291
Abstract: Advancing age is a major risk factor for malignant transformation and the development of cancer. As such, over 50% of neoplasms occur in individuals over the age of 70. The pathologies of both ageing and… read more here.
Keywords: mutations ageing; dna mutations; mitochondrial dna; ageing cancer ... See more keywords
Mitochondrial DNA D‐loop sequence analysis reveals high variation and multiple maternal origins of indigenous Tanzanian goat populations
Sign Up to like & getrecommendations! Published in 2021 at "Ecology and Evolution"
DOI: 10.1002/ece3.8265
Abstract: Abstract The Small East African (SEA) goat are widely distributed in different agro‐ecological zones of Tanzania. We report the genetic diversity, maternal origin, and phylogenetic relationship among the 12 Tanzanian indigenous goat populations, namely Fipa,… read more here.
Keywords: tanzanian goat; goat populations; goat; mitochondrial dna ... See more keywords
Comparative phylogeography of two commensal rat species (Rattus tanezumi and Rattus norvegicus) in China: Insights from mitochondrial DNA, microsatellite, and 2b‐RAD data
Sign Up to like & getrecommendations! Published in 2022 at "Ecology and Evolution"
DOI: 10.1002/ece3.9409
Abstract: Abstract Rattus norvegicus and Rattus tanezumi are dominant species of Chinese house rats, but the colonization and demographic history of two species in China have not been thoroughly explored. Phylogenetic analyses with mitochondrial DNA including… read more here.
Keywords: rattus norvegicus; norvegicus china; southeast coast; mitochondrial dna ... See more keywords
Mitochondrial DNA: Epigenetics and environment
Sign Up to like & getrecommendations! Published in 2019 at "Environmental and Molecular Mutagenesis"
DOI: 10.1002/em.22319
Abstract: Maintenance of the mitochondrial genome is essential for proper cellular function. For this purpose, mitochondrial DNA (mtDNA) needs to be faithfully replicated, transcribed, translated, and repaired in the face of constant onslaught from endogenous and… read more here.
Keywords: epigenetics environment; methylation; mtdna; dna ... See more keywords
Design of a digital‐PCR assay to quantify fragmented human mitochondrial DNA
Sign Up to like & getrecommendations! Published in 2021 at "Environmental and Molecular Mutagenesis"
DOI: 10.1002/em.22449
Abstract: Digital PCR (dPCR) has been adapted to quantify the proportion of mitochondrial DNA (mtDNA) molecules without and with double‐strand DNA breaks (DSBs). This is based on a break‐apart approach of two differentially labeled target sequences… read more here.
Keywords: molecule; mtdna; dna; digital pcr ... See more keywords
Mitochondrial DNA m.13514G>A heteroplasmy is associated with depressive symptoms in the elderly
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Geriatric Psychiatry"
DOI: 10.1002/gps.4928
Abstract: Mitochondrial DNA (mtDNA) heteroplasmy is a mixture of normal and mutated mtDNA molecules in a cell. High levels of heteroplasmy at several mtDNA sites in complex I lead to inherited neurological neurologic diseases and brain… read more here.
Keywords: associated depressive; depressive symptoms; symptoms elderly; heteroplasmy ... See more keywords
Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24037
Abstract: Whole mitochondrial DNA (mtDNA) sequencing is now systematically used in clinical laboratories to screen patients with a phenotype suggestive of mitochondrial disease. Next Generation Sequencing (NGS) has significantly increased the number of identified pathogenic mtDNA… read more here.
Keywords: fiber studies; mitochondrial dna; single fiber; pathogenicity ... See more keywords
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24107
Abstract: Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal inheritance, variant heteroplasmy, threshold effect, absence of splicing, and contextual effects of haplogroups. Currently, there are insufficient… read more here.
Keywords: interpretation; dna; mtdna variant; standards guidelines ... See more keywords
Prenatal phenotype of FBXL4‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6272
Abstract: FBXL4 ‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13 (MTDPS13) is a rare genetic disorder characterized by early neonatal onset of encephalopathy, seizures, lactic acidosis, hypotonia, dysmorphism, and severe global developmental delay. Prenatal phenotype of molecularly confirmed… read more here.
Keywords: dna depletion; depletion syndrome; encephalomyopathic mitochondrial; mitochondrial dna ... See more keywords
The myth of mitochondrial DNA and race performance in racing pigeons
Sign Up to like & getrecommendations! Published in 2021 at "Veterinary Medicine and Science"
DOI: 10.1002/vms3.494
Abstract: Abstract This is the first prospective study to investigate the impact of mitochondrial DNA (mtDNA) on race performance in a closely bred family of racing pigeons in one breeding loft where there is a high… read more here.
Keywords: racing pigeons; mitochondrial dna; performance; race performance ... See more keywords