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Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

08:00 EDT 12th April 2019 | BioPortfolio

Summary of "Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene."

Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of mitochondrial inner membrane potential and mitochondrial network in cells derived from Italian patients carrying three novel mutations in CHKB gene, recently associated with "megaconial CMD". On the bases of our findings, we hypothesize that the mitochondrial membrane potential alteration, presumably as a consequence of the altered biosynthesis of phosphatidylcholine, could be responsible for the peculiar morphological aspect of mitochondria in this disease and might be involved in the disease pathogenesis.

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This article was published in the following journal.

Name: Mitochondrion
ISSN: 1872-8278
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Mitochondrial anion carrier proteins that function as dimers and form proton channels in the INNER MITOCHONDRIAL MEMBRANE which creates proton leaks and uncouples OXIDATIVE PHOSPHORYLATION from ATP synthesis, resulting in the generation of heat instead of ATP.

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