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 …

[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 …

[HTML][HTML] Targeted A-to-G base editing in human mitochondrial DNA with programmable deaminases

SI Cho, S Lee, YG Mok, K Lim, J Lee, JM Lee, E Chung… - Cell, 2022 - cell.com
Mitochondrial DNA (mtDNA) editing paves the way for disease modeling of mitochondrial
genetic disorders in cell lines and animals and also for the treatment of these diseases in the …

Strand-selective base editing of human mitochondrial DNA using mitoBEs

Z Yi, X Zhang, W Tang, Y Yu, X Wei, X Zhang… - Nature …, 2024 - nature.com
A number of mitochondrial diseases in humans are caused by point mutations that could be
corrected by base editors, but delivery of CRISPR guide RNAs into the mitochondria is …

Mitochondrial heterogeneity in diseases

L Chen, M Zhou, H Li, D Liu, P Liao, Y Zong… - Signal transduction and …, 2023 - nature.com
As key organelles involved in cellular metabolism, mitochondria frequently undergo
adaptive changes in morphology, components and functions in response to various …

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 …

Smart design of nanomaterials for mitochondria‐targeted nanotherapeutics

SS Liew, X Qin, J Zhou, L Li, W Huang… - Angewandte Chemie …, 2021 - Wiley Online Library
Mitochondria are the powerhouse of cells. They are vital organelles that maintain cellular
function and metabolism. Dysfunction of mitochondria results in various diseases with a …

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 …

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 …

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 …