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Mitophagy and mitochondrial morphology in patients with the m.13051G>A mitochondrial DNA mutation.

Mitochondria have diverse functions within the cell, from supplying cellular energy, to signalling cellular differentiation and cell death. Mitochondrial diseases that result from maternally transmitted mitochondrial DNA (mtDNA) mutations occur in 1/400 individuals. Mitophagy is a form of selective autophagy, a specialized cellular mechanism for the recycling of redundant or dysfunctional mitochondria. Defects in mitochondrial quality control and mitochondrial dynamics have been reported in various neurological disorders.

Here we used a previously developed high throughput imaging method for quantifying mitophagy and investigating mitochondrial morphology in cultured primary fibroblasts derived from three members of a family harbouring the homoplasmic m.13051G>A mitochondrial genetic mutation. Patient derived fibroblasts were cultured either in standard glucose media (25mM glucose) or galactose media (no glucose). Cells were immunostained for the autophagy marker LC3 and the mitochondrial protein TOM20 and analysed with INCell 1000.

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Modulating mitochondrial quality in disease transmission - paper