Mitochondrial DNA mutations in human disease

RW Taylor, DM Turnbull - Nature Reviews Genetics, 2005 - nature.com
The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

[HTML][HTML] Mitochondria and reactive oxygen species

AJ Kowaltowski, NC de Souza-Pinto… - Free Radical Biology …, 2009 - Elsevier
Mitochondria are a quantitatively relevant source of reactive oxygen species (ROS) in the
majority of cell types. Here we review the sources and metabolism of ROS in this organelle …

Somatic mitochondrial DNA mutations in mammalian aging

NG Larsson - Annual review of biochemistry, 2010 - annualreviews.org
Mitochondrial dysfunction is heavily implicated in the multifactorial aging process. Aging
humans have increased levels of somatic mtDNA mutations that tend to undergo clonal …

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

AE Frazier, DR Thorburn, AG Compton - Journal of Biological Chemistry, 2019 - ASBMB
Inherited disorders of oxidative phosphorylation cause the clinically and genetically
heterogeneous diseases known as mitochondrial energy generation disorders, or …

Mitochondria as a source of reactive oxygen and nitrogen species: from molecular mechanisms to human health

TR Figueira, MH Barros, AA Camargo… - Antioxidants & redox …, 2013 - liebertpub.com
Mitochondrially generated reactive oxygen species are involved in a myriad of signaling and
damaging pathways in different tissues. In addition, mitochondria are an important target of …

Relation between mitochondrial membrane potential and ROS formation

JM Suski, M Lebiedzinska, M Bonora, P Pinton… - … : methods and protocols, 2012 - Springer
Mitochondria are considered as the main source of reactive oxygen species (ROS) in the
cell. For this reason, they have been recognized as a source of various pathological …

Mitochondrial genome (mtDNA) mutations that generate reactive oxygen species

A Hahn, S Zuryn - Antioxidants, 2019 - mdpi.com
Mitochondria are critical for the energetic demands of virtually every cellular process within
nucleated eukaryotic cells. They harbour multiple copies of their own genome (mtDNA), as …

Mitochondrial DNA mutations induce mitochondrial dysfunction, apoptosis and sarcopenia in skeletal muscle of mitochondrial DNA mutator mice

A Hiona, A Sanz, GC Kujoth, R Pamplona, AY Seo… - PloS one, 2010 - journals.plos.org
Background Aging results in a progressive loss of skeletal muscle, a condition known as
sarcopenia. Mitochondrial DNA (mtDNA) mutations accumulate with aging in skeletal …

[HTML][HTML] How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models

MW van Gisbergen, AM Voets, MHW Starmans… - … Research/Reviews in …, 2015 - Elsevier
Several mutations in nuclear genes encoding for mitochondrial components have been
associated with an increased cancer risk or are even causative, eg succinate …

Mitochondrial cytochrome c oxidase deficiency

M Rak, P Bénit, D Chrétien, J Bouchereau… - Clinical …, 2016 - portlandpress.com
As with other mitochondrial respiratory chain components, marked clinical and genetic
heterogeneity is observed in patients with a cytochrome c oxidase deficiency. This …