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

Silvia Marchet, Federica Invernizzi, Flavia Blasevich, Valentina Bruno, Sabrina Dusi, Paola Venco, Chiara Fiorillo, Giovanni Baranello, Francesco Pallotti, Eleonora Lamantea, Marina Mora, Valeria Tiranti, Costanza Lamperti

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Abstract

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.

Original languageEnglish
Pages (from-to)24-29
Number of pages6
JournalMitochondrion
Volume47
DOIs
Publication statusPublished - Jul 2019

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Marchet, S., Invernizzi, F., Blasevich, F., Bruno, V., Dusi, S., Venco, P., Fiorillo, C., Baranello, G., Pallotti, F., Lamantea, E., Mora, M., Tiranti, V., & Lamperti, C. (2019). Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. Mitochondrion, 47, 24-29. https://doi.org/10.1016/j.mito.2019.04.002