Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration

Reeve, AK; Krishnan, KJ; Turnbull, D

doi:10.1196/annals.1427.016

Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration

Lookup NU author(s): Dr Amy Reeve, Emeritus Professor Doug Turnbull

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Abstract

Patients with disorders from mutations in the mitochondrial genome have variable phenotypes, but common to many of these disorders are underlying changes in postmitotic cells, particularly neurons and muscle fibers. The mitochondrial dysfunction caused by these mutations has been shown to be associated with signs of apoptosis and to cause cell loss. Mutations of the mitochondrial genome have also been shown to accumulate with age and in common neurodegenerative diseases, such as Parkinson's disease. This review presents recent data to show that the information gained from studying patients with mitochondrial disorders can help our understanding of the role of mitochondrial DNA mutations in brain aging and neurodegeneration.