Extreme heterogeneity of human mitochondrial DNA from organelles to populations

JB Stewart, PF Chinnery - Nature Reviews Genetics, 2021 - nature.com
Contrary to the long-held view that most humans harbour only identical mitochondrial
genomes, deep resequencing has uncovered unanticipated extreme genetic variation within …

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

JB Stewart, PF Chinnery - Nature Reviews Genetics, 2015 - nature.com
Common genetic variants of mitochondrial DNA (mtDNA) increase the risk of developing
several of the major health issues facing the western world, including neurodegenerative …

[HTML][HTML] The rise of mitochondria in medicine

M Picard, DC Wallace, Y Burelle - Mitochondrion, 2016 - Elsevier
Once considered exclusively the cell's powerhouse, mitochondria are now recognized to
perform multiple essential functions beyond energy production, impacting most areas of cell …

An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank

E Yonova-Doing, C Calabrese, A Gomez-Duran… - Nature …, 2021 - nature.com
Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly
due to a lack of genotype calling and quality-control procedures. Developing an at-scale …

Mitochondrial dysfunction in schizophrenia: pathways, mechanisms and implications

A Rajasekaran, G Venkatasubramanian, M Berk… - Neuroscience & …, 2015 - Elsevier
Mitochondria play a critical role in regulating cellular functions including bioenergetics,
calcium homeostasis, redox signalling, and apoptotic cell death. Mitochondria are also …

[HTML][HTML] Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

A Pyle, H Anugrha, M Kurzawa-Akanbi, A Yarnall… - Neurobiology of …, 2016 - Elsevier
Like any organ, the brain is susceptible to the march of time and a reduction in mitochondrial
biogenesis is a hallmark of the aging process. In the largest investigation of mitochondrial …

MitophAging: mitophagy in aging and disease

D Bakula, M Scheibye-Knudsen - Frontiers in cell and developmental …, 2020 - frontiersin.org
Maintaining mitochondrial health is emerging as a keystone in aging and associated
diseases. The selective degradation of mitochondria by mitophagy is of particular …

Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases

KL DeBalsi, KE Hoff, WC Copeland - Ageing research reviews, 2017 - Elsevier
As regulators of bioenergetics in the cell and the primary source of endogenous reactive
oxygen species (ROS), dysfunctional mitochondria have been implicated for decades in the …

Assessing the fitness consequences of mitonuclear interactions in natural populations

GE Hill, JC Havird, DB Sloan, RS Burton… - Biological …, 2019 - Wiley Online Library
Metazoans exist only with a continuous and rich supply of chemical energy from oxidative
phosphorylation in mitochondria. The oxidative phosphorylation machinery that mediates …

Altered mitochondrial function, mitochondrial DNA and reduced metabolic flexibility in patients with diabetic nephropathy

A Czajka, S Ajaz, L Gnudi, CK Parsade, P Jones… - …, 2015 - thelancet.com
The purpose of this study was to determine if mitochondrial dysfunction plays a role in
diabetic nephropathy (DN), a kidney disease which affects> 100 million people worldwide …