Research
Gehrig S, Mihaylova V, Frese S, Mueller S, Ligon-Auer M, Spengler C, Petersen J, Lundby C, Jung H
Orphanet Journal of Rare Diseases 2016, 11 :105 (29 July 2016)
Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy
Orphanet Journal of Rare Diseases201611:105
DOI: 10.1186/s13023-016-0488-x
© The Author(s). 2016
Received: 13 May 2016
Accepted: 21 July 2016
Published: 29 July 2016
Abstract
Background
Mitochondrial 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.
Results
Mitochondrial 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.
Conclusion
Mitochondrial myopathy leads to impaired mitochondrial quantity and quality and a shift towards a more glycolytic skeletal muscle phenotype.
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