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AIMS To investigate the underlying mechanisms of how the defects of desmin cause mitochondrial abnormalities in desminopathy. MATERIAL AND METHODS Primary myoblasts were isolated from muscle biopsy of a desminopathy patient with mitochondrial abnormalities. Two-dimensional gel electrophoresis analyses of mitochondrial proteins were performed in mitochondria isolated from myoblasts. Immunostaining, immunoblot, and mitochondrial function tests were carried out to confirm the proteomic results. RESULTS 42 proteins were found with significant expression differences in the mitochondrial proteomics. Several proteins associated with regulation of the mitochondrial permeability transition pore (MPTP) complex were identified in functional cluster analysis. The patterns of protein expression were also confirmed by strong immunoreactivity, increased MPTP opening and elevated level of oxidative stress. CONCLUSIONS The study provides an overall perspective of the mitochondrial proteome plasticity in a case of desminopathy with mitochondrial abnormalities. The expression patterns of protein associated with MPTP indicate that desmin might affect MPTP complex as potential targets involved in mitochondrial dysfunction in desminopathy. However, the precise underlying mechanism remains to be elucidated.
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