Sequence Analysis of the Entire Mitochondrial Genome in Parkinson's Disease

• Published in: Biochemical and biophysical research communications Vol. 290; no. 5; pp. 1593 - 1601
• Main Authors: Vives-Bauza, Cristofol, Andreu, Antoni L., Manfredi, Giovanni, Beal, M.Flint, Janetzky, Bernd, Gruenewald, Thomas H., Lin, Michael T.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 08.02.2002
• Subjects: Amino Acid Substitution - genetics; DNA Mutational Analysis - methods; DNA, Mitochondrial - chemistry; DNA, Mitochondrial - genetics; DNA, Mitochondrial - isolation & purification; Genetic Variation; Genome, Human; Humans; mitochondrial DNA; Parkinson Disease - genetics; Parkinson's disease; Point Mutation; Polymerase Chain Reaction - methods; Polymorphism, Genetic; sequencing; Substantia Nigra - chemistry; mitochondrial DNA; Parkinson's disease; sequencing
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1006/bbrc.2002.6388

The pathogenesis of Parkinson's disease (PD) is largely unknown. Indirect evidence suggests that mutations in mitochondrial DNA (mtDNA) might play a role, but previous studies have not consistently associated any specific mutations with PD. However, these studies have generally been confined to limited areas of the mitochondrial genome. We therefore sequenced the entire mitochondrial genome from substantia nigra of 8 PD and 9 control subjects. Several sequence variants were distributed differently between PD and control subjects, but all were previously reported polymorphisms. Several secondary LHON mutations were found, as well as a number of novel missense mutations, but all were rare and did not differ between PD and control subjects. Finally, PD and control subjects did not differ in the total number of all mutations, nor the total number of missense mutations. Thus, mtDNA involvement in PD, if any, is likely to be complex and should be reconsidered carefully.