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) …

The genetics and pathology of mitochondrial disease

CL Alston, MC Rocha, NZ Lax… - The Journal of …, 2017 - Wiley Online Library
Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

[PDF][PDF] Circular RNA MAT2B promotes glycolysis and malignancy of hepatocellular carcinoma through the miR‐338‐3p/PKM2 axis under hypoxic stress

Q Li, X Pan, D Zhu, Z Deng, R Jiang, X Wang - Hepatology, 2019 - Wiley Online Library
Glucose metabolism reprogramming, which is a well‐established characteristic of multiple
cancers, demands a higher rate of glycolysis to meet the increasing demands for …

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 …

Quantitative 3D mapping of the human skeletal muscle mitochondrial network

AE Vincent, K White, T Davey, J Philips, RT Ogden… - Cell reports, 2019 - cell.com
Genetic and biochemical defects of mitochondrial function are a major cause of human
disease, but their link to mitochondrial morphology in situ has not been defined. Here, we …

Recent advances in understanding the molecular genetic basis of mitochondrial disease

K Thompson, JJ Collier, RIC Glasgow… - Journal of inherited …, 2020 - Wiley Online Library
Mitochondrial disease is hugely diverse with respect to associated clinical presentations and
underlying genetic causes, with pathogenic variants in over 300 disease genes currently …

[HTML][HTML] Mosaic dysfunction of mitophagy in mitochondrial muscle disease

T Mito, AE Vincent, J Faitg, RW Taylor, NA Khan… - Cell metabolism, 2022 - cell.com
Mitophagy is a quality control mechanism that eliminates damaged mitochondria, yet its
significance in mammalian pathophysiology and aging has remained unclear. Here, we …

[HTML][HTML] Diagnosis and treatment of mitochondrial myopathies

ST Ahmed, L Craven, OM Russell, DM Turnbull… - …, 2018 - Elsevier
Mitochondrial myopathies are progressive muscle conditions caused primarily by the
impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. This causes a …

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

R Filograna, C Koolmeister, M Upadhyay, A Pajak… - Science …, 2019 - science.org
Heteroplasmic mtDNA mutations typically act in a recessive way and cause mitochondrial
disease only if present above a certain threshold level. We have experimentally investigated …

Respiration-deficient astrocytes survive as glycolytic cells in vivo

LM Supplie, T Düking, G Campbell, F Diaz… - Journal of …, 2017 - Soc Neuroscience
Neurons and glial cells exchange energy-rich metabolites and it has been suggested,
originally based on in vitro data, that astrocytes provide lactate to glutamatergic synapses …