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 …

Organization and expression of the mammalian mitochondrial genome

O Rackham, A Filipovska - Nature Reviews Genetics, 2022 - nature.com
The mitochondrial genome encodes core subunits of the respiratory chain that drives
oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in …

[HTML][HTML] Mitochondrial diseases: hope for the future

OM Russell, GS Gorman, RN Lightowlers, DM Turnbull - Cell, 2020 - cell.com
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum
of mutations in genes encoded by either the nuclear or the mitochondrial genome …

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 …

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 …

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

PA Gammage, C Viscomi, ML Simard, ASH Costa… - Nature medicine, 2018 - nature.com
Mutations of the mitochondrial genome (mtDNA) underlie a substantial portion of
mitochondrial disease burden. These disorders are currently incurable and effectively …

In vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue

P Silva-Pinheiro, PA Nash, L Van Haute… - Nature …, 2022 - nature.com
Mitochondria host key metabolic processes vital for cellular energy provision and are central
to cell fate decisions. They are subjected to unique genetic control by both nuclear DNA and …

MitoTALEN reduces mutant mtDNA load and restores tRNAAla levels in a mouse model of heteroplasmic mtDNA mutation

SR Bacman, JHK Kauppila, CV Pereira, N Nissanka… - Nature medicine, 2018 - nature.com
Mutations in the mitochondrial DNA (mtDNA) are responsible for several metabolic
disorders, commonly involving muscle and the central nervous system. Because of the …

Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis

ALM Smith, JC Whitehall, C Bradshaw, D Gay… - Nature cancer, 2020 - nature.com
Oxidative phosphorylation (OXPHOS) defects caused by somatic mitochondrial DNA
mutations increase with age in human colorectal epithelium and are prevalent in colorectal …

Mitochondrial function in development and disease

MP Rossmann, SM Dubois… - Disease models & …, 2021 - journals.biologists.com
Mitochondria are organelles with vital functions in almost all eukaryotic cells. Often
described as the cellular 'powerhouses' due to their essential role in aerobic oxidative …