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 …

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 …

Mitochondrial dysfunction as a cause of optic neuropathies

V Carelli, FN Ross-Cisneros, AA Sadun - Progress in retinal and eye …, 2004 - Elsevier
Mitochondria are increasingly recognized as central players in the life and death of cells and
especially of neurons. The energy-dependence of retinal ganglion cells (RGC) and their …

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 …

Multidimensional drug profiling by automated microscopy

ZE Perlman, MD Slack, Y Feng, TJ Mitchison, LF Wu… - Science, 2004 - science.org
We present a method for high-throughput cytological profiling by microscopy. Our system
provides quantitative multidimensional measures of individual cell states over wide ranges …

An Incompatibility between a Mitochondrial tRNA and Its Nuclear-Encoded tRNA Synthetase Compromises Development and Fitness in Drosophila

CD Meiklejohn, MA Holmbeck, MA Siddiq, DN Abt… - PLoS …, 2013 - journals.plos.org
Mitochondrial transcription, translation, and respiration require interactions between genes
encoded in two distinct genomes, generating the potential for mutations in nuclear and …

Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy

A Danese, S Patergnani, A Maresca, C Peron… - Cell Reports, 2022 - cell.com
Leber's hereditary optic neuropathy (LHON), a disease associated with a mitochondrial DNA
mutation, is characterized by blindness due to degeneration of retinal ganglion cells (RGCs) …

[HTML][HTML] The epidemiology of mitochondrial disorders—past, present and future

AM Schaefer, RW Taylor, DM Turnbull… - Biochimica et Biophysica …, 2004 - Elsevier
A number of epidemiological studies of mitochondrial disease have been carried out over
the last decade, clearly demonstrating that mitochondrial disorders are far more common …

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

MGD Bates, JP Bourke, C Giordano… - European heart …, 2012 - academic.oup.com
Mitochondrial disease refers to a heterogenous group of genetic disorders that result from
dysfunction of the final common pathway of energy metabolism. Mitochondrial DNA …

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola… - Brain, 2006 - academic.oup.com
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA)
polymerase γ (POLG1) have recently been described in patients with diverse clinical …