Human mitochondrial DNA: roles of inherited and somatic mutations

EA Schon, S DiMauro, M Hirano - Nature Reviews Genetics, 2012 - nature.com
Mutations in the human mitochondrial genome are known to cause an array of diverse
disorders, most of which are maternally inherited, and all of which are associated with …

Inflammaging and anti-inflammaging: a systemic perspective on aging and longevity emerged from studies in humans

C Franceschi, M Capri, D Monti, S Giunta… - Mechanisms of ageing …, 2007 - Elsevier
A large part of the aging phenotype, including immunosenescence, is explained by an
imbalance between inflammatory and anti-inflammatory networks, which results in the low …

The m1A landscape on cytosolic and mitochondrial mRNA at single-base resolution

M Safra, A Sas-Chen, R Nir, R Winkler, A Nachshon… - Nature, 2017 - nature.com
Modifications on mRNA offer the potential of regulating mRNA fate post-transcriptionally.
Recent studies suggested the widespread presence of N 1-methyladenosine (m1A), which …

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

M Van Oven, M Kayser - Human mutation, 2009 - Wiley Online Library
Human mitochondrial DNA is widely used as tool in many fields including evolutionary
anthropology and population history, medical genetics, genetic genealogy, and forensic …

[HTML][HTML] Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies

P Yu-Wai-Man, PG Griffiths, PF Chinnery - Progress in retinal and eye …, 2011 - Elsevier
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

Leigh syndrome: a tale of two genomes

AB Bakare, EJ Lesnefsky, S Iyer - Frontiers in Physiology, 2021 - frontiersin.org
Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early
childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The …

[HTML][HTML] Mitochondria in the signaling pathways that control longevity and health span

M Akbari, TBL Kirkwood, VA Bohr - Ageing research reviews, 2019 - Elsevier
Genetic and pharmacological intervention studies have identified evolutionarily conserved
and functionally interconnected networks of cellular energy homeostasis, nutrient-sensing …

Pathogenic mitochondrial DNA mutations are common in the general population

HR Elliott, DC Samuels, JA Eden, CL Relton… - The American journal of …, 2008 - cell.com
Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their
prevalence in the general population is not known. We determined the frequency of ten …

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

C Giordano, L Iommarini, L Giordano, A Maresca… - Brain, 2014 - academic.oup.com
Leber's hereditary optic neuropathy is a maternally inherited blinding disease caused as a
result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. It is …

Mitochondrial disorders in the nervous system

S DiMauro, EA Schon - Annu. Rev. Neurosci., 2008 - annualreviews.org
Mitochondrial diseases (encephalomyopathies) have traditionally been ascribed to defects
of the respiratory chain, which has helped researchers explain their genetic and clinical …