Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

“…Loss of function variants in the chromosome 2 open reading frame 69 ( C2orf69 ) gene, which controls the levels of the glycogen branching enzyme, affects mitochondrial membrane potential and oxidative respiration in cultured neurons, consistent with a glycogen storage-associated mitochondriopathy [ 56 ]. Similarly, altered mitochondrial bioenergetics has been reported in the liver of heterozygous Gbe1 +/− mice [ 57 ]. Further studies are needed to corroborate the implication of muscle mitochondrial impairment in the pathophysiology of other GSDs−especially those, like McArdle disease, associated with exercise intolerance and low aerobic capacity.…”