Chapter 41 - Mitochondrial Mutations in Parkinson's Disease and Dystonias

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This chapter reviews the principles of mitochondrial genetics, and discusses the evidence for a role for mtDNA mutations in Parkinson's disease (PD). The chapter also explores the possibility that the accumulation of somatic mtDNA mutations may account for the mitochondrial dysfunction in PD. Following this, it presents the mtDNA mutations that have been linked to certain forms of dystonia, with a discussion of the possible role of mtDNA mutations in the more common late-onset forms of focal dystonia. The basal ganglia are a common site of pathology in relatively rare classic mitochondrial disorders such as Leigh syndrome. Mitochondrial dysfunction and mtDNA mutations also may play a role in more common basal ganglia disorders such as PD and dystonia. MtDNA mutations can be associated with parkinsonism in rare patients, but inherited pathogenic mtDNA mutations are absent in the majority of idiopathic PD patients. Further studies are needed to address the possibility that the accumulation of somatic mutations may play a role in PD. mtDNA mutations also can cause rare forms of dystonia, but the role of mitochondrial dysfunction and mtDNA mutations in more common forms of dystonia is uncertain.