Mitochondrial Pathology in Muscle of a Patient with a Novel Parkin Mutation

Abstract

Mutations of the parkin gene on chromosome 6 cause early-onset parkinsonism. Myopathy has not been reported to be a feature of this condition. Here we report the muscle biopsy findings of a 53-year-old man with a novel parkin gene mutation (IVS-9-1 deletion). His symptoms were characterized by typical early-onset, dopa-responsive, and slowly progressive parkinsonism. Parkin gene analysis revealed a homozygous IVS-9-1 deletion in the proband and his sibling. The unusual feature was hypertrophy of bilateral thigh muscles in the proband. Muscle biopsy from the biceps brachii muscle showed abundant cytochrome oxidase (COX) (−) fibers. This is the first report on the coexistence of a myopathy with COX deficiency with parkin disease and may shed light on the function of parkin in muscle.

Keywords:

• COX deficiency
• mitochondria
• muscle
• parkin mutation
• Parkinson's disease