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Orphanet Journal of Rare Diseases

, 11:105

mitochondrial diseases

Abstract

BackgroundMitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches remain elusive. Therefore, the aim of the present study was to investigate disease-related impairments in skeletal muscle properties in patients with mitochondrial myopathy. Accordingly, skeletal muscle biopsies were obtained from six patients with moleculargenetically diagnosed mitochondrial myopathy one male and five females, 53 ± 9 years and eight age- and gender-matched healthy controls two males and six females, 58 ± 14 years to determine mitochondrial respiratory capacity of complex I-V, mitochondrial volume density and fiber type distribution.

ResultsMitochondrial volume density 4.0 ± 0.5 vs. 5.1 ± 0.8 % as well as respiratory capacity of complex I-V were lower P < 0.05 in mitochondrial myopathy and associated with a higher P < 0.001 proportion of type II fibers 65.2 ± 3.6 vs. 44.3 ± 5.9 %. Additionally, mitochondrial volume density and maximal oxidative phosphorylation capacity correlated positively P < 0.05 to peak oxygen uptake.

ConclusionMitochondrial myopathy leads to impaired mitochondrial quantity and quality and a shift towards a more glycolytic skeletal muscle phenotype.

KeywordsBioenergetics Fat oxidation Mitochondria Mitochondrial cytopathy Neuromuscular disease Skeletal muscle phenotype  Download fulltext PDF



Autor: Saskia Maria Gehrig - Violeta Mihaylova - Sebastian Frese - Sandro Manuel Mueller - Maria Ligon-Auer - Christina M. Speng

Fuente: https://link.springer.com/







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