Gehrig 2016 Orphanet J Rare Dis
|Gehrig SM, Mihaylova V, Frese S, Mueller SM, Ligon-Auer M, Spengler CM, Petersen JA, Lundby C, Jung HH (2016) Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopath. Orphanet J Rare Dis 11:105.|
Abstract: 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.
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.
Mitochondrial myopathy leads to impaired mitochondrial quantity and quality and a shift towards a more glycolytic skeletal muscle phenotype.
• Keywords: Bioenergetics, Fat oxidation, Mitochondria, Mitochondrial cytopathy, Neuromuscular disease, Skeletal muscle phenotype
Labels: MiParea: Respiration, mtDNA;mt-genetics, Exercise physiology;nutrition;life style, mt-Medicine, Patients Pathology: Myopathy
Organism: Human Tissue;cell: Skeletal muscle Preparation: Permeabilized tissue
Coupling state: LEAK, OXPHOS Pathway: F, N, S, CIV, NS, Other combinations, ROX HRR: Oxygraph-2k