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

ABSTRACT:

Background

McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle oxidation impairment (e.g., low peak oxygen uptake (VO_2peak)), a phenomenon traditionally attributed to reduced glycolytic flux and Krebs cycle anaplerosis. Here we hypothesized an additional role for muscle mitochondrial network alterations associated with massive intracellular glycogen accumulation.

Methods

We analyzed in depth mitochondrial characteristics-content, biogenesis, ultrastructure-and network integrity in skeletal-muscle from McArdle/control mice and two patients. We also determined VO_2peak in patients (both sexes, N = 145) and healthy controls (N = 133).

Results

SUBMITTER: Villarreal-Salazar M 

PROVIDER: S-EPMC9758572 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature