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 …

[HTML][HTML] Mitochondria on the move: Horizontal mitochondrial transfer in disease and health

LF Dong, J Rohlena, R Zobalova, Z Nahacka… - Journal of Cell …, 2023 - rupress.org
Mammalian genes were long thought to be constrained within somatic cells in most cell
types. This concept was challenged recently when cellular organelles including …

Mitochondria in lung disease

SM Cloonan, AMK Choi - The Journal of clinical …, 2016 - Am Soc Clin Investig
Mitochondria are a distinguishing feature of eukaryotic cells. Best known for their critical
function in energy production via oxidative phosphorylation (OXPHOS), mitochondria are …

Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations

M Li, R Schröder, S Ni, B Madea… - Proceedings of the …, 2015 - National Acad Sciences
Heteroplasmy in human mtDNA may play a role in cancer, other diseases, and aging, but
patterns of heteroplasmy variation across different tissues have not been thoroughly …

Genetic drift can compromise mitochondrial replacement by nuclear transfer in human oocytes

M Yamada, V Emmanuele, MJ Sanchez-Quintero… - Cell stem cell, 2016 - cell.com
Replacement of mitochondria through nuclear transfer between oocytes of two different
women has emerged recently as a strategy for preventing inheritance of mtDNA diseases …

Mitochondrial heterogeneity

J Aryaman, IG Johnston, NS Jones - Frontiers in genetics, 2019 - frontiersin.org
Cell-to-cell heterogeneity drives a range of (patho) physiologically important phenomena,
such as cell fate and chemotherapeutic resistance. The role of metabolism, and particularly …

Genetic counselling for maternally inherited mitochondrial disorders

J Poulton, J Finsterer, P Yu-Wai-Man - Molecular diagnosis & therapy, 2017 - Springer
The aim of this review was to provide an evidence-based approach to frequently asked
questions relating to the risk of transmitting a maternally inherited mitochondrial disorder …

Mitochondrial heteroplasmy beyond the oocyte bottleneck

J Van den Ameele, AYZ Li, H Ma… - Seminars in Cell & …, 2020 - Elsevier
Inheritance of the mitochondrial genome does not follow the rules of conventional
Mendelian genetics. The mitochondrial DNA (mtDNA) is present in many copies per cell and …