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 …

Mitochondrial DNA variation and cancer

PK Kopinski, LN Singh, S Zhang, MT Lott… - Nature Reviews …, 2021 - nature.com
Variation in the mitochondrial DNA (mtDNA) sequence is common in certain tumours. Two
classes of cancer mtDNA variants can be identified: de novo mutations that act as 'inducers' …

Blood mitochondrial DNA copy number: what are we counting?

M Picard - Mitochondrion, 2021 - Elsevier
There is growing scientific interest to develop scalable biological measures that capture
mitochondrial (dys) function. Mitochondria have their own genome, the mitochondrial DNA …

Mitochondrial diseases

GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

P Yu-Wai-Man, NJ Newman, V Carelli… - Science translational …, 2020 - science.org
REVERSE is a randomized, double-masked, sham-controlled, multicenter, phase 3 clinical
trial that evaluated the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects …

[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 …

The potential of mitochondrial genome engineering

P Silva-Pinheiro, M Minczuk - Nature Reviews Genetics, 2022 - nature.com
Mitochondria are subject to unique genetic control by both nuclear DNA and their own
genome, mitochondrial DNA (mtDNA), of which each mitochondrion contains multiple …

Psychological stress and mitochondria: a systematic review

M Picard, BS McEwen - Biopsychosocial Science and Medicine, 2018 - journals.lww.com
Objective Mitochondria are multifunctional life-sustaining organelles that represent a
potential intersection point between psychosocial experiences and biological stress …

mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease

JP Grady, SJ Pickett, YS Ng, CL Alston… - EMBO molecular …, 2018 - embopress.org
Mitochondrial disease associated with the pathogenic m. 3243A> G variant is a common,
clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear …

Pharmacological inhibition of necroptosis protects from dopaminergic neuronal cell death in Parkinson's disease models

A Iannielli, S Bido, L Folladori, A Segnali, C Cancellieri… - Cell reports, 2018 - cell.com
Dysfunctions in mitochondrial dynamics and metabolism are common pathological
processes associated with Parkinson's disease (PD). It was recently shown that an inherited …