Mitochondrial DNA copy number in human disease: the more the better?

R Filograna, M Mennuni, D Alsina, NG Larsson - FEBS letters, 2021 - Wiley Online Library
Most of the genetic information has been lost or transferred to the nucleus during the
evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that …

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 mutations and mitoepigenetics: Focus on regulation of oxidative stress-induced responses in breast cancers

K Chen, P Lu, NM Beeraka, OA Sukocheva… - Seminars in cancer …, 2022 - Elsevier
Epigenetic regulation of mitochondrial DNA (mtDNA) is an emerging and fast-developing
field of research. Compared to regulation of nucler DNA, mechanisms of mtDNA epigenetic …

[HTML][HTML] Mammalian mitochondria and aging: an update

TES Kauppila, JHK Kauppila, NG Larsson - Cell metabolism, 2017 - cell.com
Mitochondria were first postulated to contribute to aging more than 40 years ago. During the
following decades, multiple lines of evidence in model organisms and humans showed that …

Mitochondria and cancer

WX Zong, JD Rabinowitz, E White - Molecular cell, 2016 - cell.com
Decades ago, Otto Warburg observed that cancers ferment glucose in the presence of
oxygen, suggesting that defects in mitochondrial respiration may be the underlying cause of …

Whole genome sequencing analysis for cancer genomics and precision medicine

H Nakagawa, M Fujita - Cancer science, 2018 - Wiley Online Library
Explosive advances in next‐generation sequencer (NGS) and computational analyses have
enabled exploration of somatic protein‐altered mutations in most cancer types, with coding …

Maintenance and expression of mammalian mitochondrial DNA

CM Gustafsson, M Falkenberg… - Annual review of …, 2016 - annualreviews.org
Mammalian mitochondrial DNA (mtDNA) encodes 13 proteins that are essential for the
function of the oxidative phosphorylation system, which is composed of four respiratory …

Comprehensive molecular characterization of mitochondrial genomes in human cancers

Y Yuan, YS Ju, Y Kim, J Li, Y Wang, CJ Yoon, Y Yang… - Nature …, 2020 - nature.com
Mitochondria are essential cellular organelles that play critical roles in cancer. Here, as part
of the International Cancer Genome Consortium/The Cancer Genome Atlas Pan-Cancer …

Impact of cancer metabolism on therapy resistance–clinical implications

AC Gonçalves, E Richiardone, J Jorge, B Polónia… - Drug Resistance …, 2021 - Elsevier
Despite an increasing arsenal of anticancer therapies, many patients continue to have poor
outcomes due to the therapeutic failures and tumor relapses. Indeed, the clinical efficacy of …

[HTML][HTML] Mitochondrial DNA is a major source of driver mutations in cancer

M Kim, M Mahmood, E Reznik, PA Gammage - Trends in cancer, 2022 - cell.com
Mitochondrial DNA (mtDNA) mutations are among the most common genetic events in all
tumors and directly impact metabolic homeostasis. Despite the central role mitochondria …