Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle
Fuchen Liu1,2, Jianwei Lou1, Dandan Zhao1
1a Department of Neurology , Qilu Hospital of Shandong University , Jinan , China.
The International Journal of Neuroscience
|May 23, 2015
Summary
Mitochondrial abnormalities are common in dysferlinopathy patients, suggesting mitochondria play a role in disease progression. This finding may lead to new treatments for muscular diseases using mitochondrial protective drugs.
Area of Science:
- Neurology
- Mitochondrial Biology
- Muscle Diseases
Background:
- Mitochondrial defects are linked to various muscular diseases.
- Dysferlinopathy is rarely associated with mitochondrial dysfunction.
Purpose of the Study:
- To investigate mitochondrial abnormalities in a cohort of dysferlinopathy patients.
- To explore the role of mitochondrial dysfunction in dysferlinopathy.
Main Methods:
- Retrospective analysis of clinical data and muscle pathologies from nine dysferlinopathy cases.
- Assay of mitochondrial DNA (mtDNA) copy number, protein levels, and enzyme activities of mitochondrial complexes.
Main Results:
- All nine patients showed dystrophic changes, ragged-red fibers, and cytochrome c oxidase-deficient fibers.
- Increased mtDNA copy number was observed in 56% of muscle fibers.
- Decreased protein levels and impaired activities of mitochondrial complexes I, III, and IV were detected, alongside reduced ATP levels in fibroblasts.
Conclusions:
- Significant mitochondrial abnormalities are prevalent in dysferlinopathy muscles.
- Mitochondria likely contribute to the progression of dysferlinopathy.
- Mitochondrial protective drugs may offer therapeutic potential for dysferlinopathy symptoms.
Keywords:
CCO-deficient fibersdysferlinopathymitochondrionmuscle biopsymuscular dystrophyragged-red fibersMore Related Videos
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