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 …

Mitochondrial function as a therapeutic target in heart failure

DA Brown, JB Perry, ME Allen, HN Sabbah… - Nature Reviews …, 2017 - nature.com
Heart failure is a pressing worldwide public-health problem with millions of patients having
worsening heart failure. Despite all the available therapies, the condition carries a very poor …

Mitochondria as central regulators of neural stem cell fate and cognitive function

M Khacho, R Harris, RS Slack - Nature Reviews Neuroscience, 2019 - nature.com
Emerging evidence now indicates that mitochondria are central regulators of neural stem
cell (NSC) fate decisions and are crucial for both neurodevelopment and adult …

Ovarian ageing: the role of mitochondria in oocytes and follicles

P May-Panloup, L Boucret… - Human reproduction …, 2016 - academic.oup.com
BACKGROUND There is a great inter-individual variability of ovarian ageing, and almost
20% of patients consulting for infertility show signs of premature ovarian ageing. This …

Dynamic stem cell states: naive to primed pluripotency in rodents and humans

L Weinberger, M Ayyash, N Novershtern… - … reviews Molecular cell …, 2016 - nature.com
The molecular mechanisms and signalling pathways that regulate the in vitro preservation of
distinct pluripotent stem cell configurations, and their induction in somatic cells by direct …

Mitochondrial genetic medicine

DC Wallace - Nature genetics, 2018 - nature.com
Inherited mitochondrial DNA (mtDNA) diseases were discovered 30 years ago, and their
characterization has provided a new perspective on the etiology of the common metabolic …

Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease

DC Wallace, D Chalkia - Cold Spring Harbor …, 2013 - cshperspectives.cshlp.org
The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the
common “complex” diseases. The maternally inherited mtDNA codes for essential energy …

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

E Kang, J Wu, NM Gutierrez, A Koski… - Nature, 2016 - nature.com
Maternally inherited mitochondrial (mt) DNA mutations can cause fatal or severely
debilitating syndromes in children,,, with disease severity dependent on the specific gene …

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

LA Hyslop, P Blakeley, L Craven, J Richardson… - Nature, 2016 - nature.com
Mitochondrial DNA (mtDNA) mutations are maternally inherited and are associated with a
broad range of debilitating and fatal diseases. Reproductive technologies designed to …

Mutations causing mitochondrial disease: What is new and what challenges remain?

RN Lightowlers, RW Taylor, DM Turnbull - Science, 2015 - science.org
Mitochondrial diseases are among the most common and most complex of all inherited
genetic diseases. The involvement of both the mitochondrial and nuclear genome presents …