Sequence analysis of the entire mitochondrial genome in Parkinson's disease.
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.
Vives-Bauza
Cristofol
C
Centre d' Investigacions en Bioquimica i Biologia Molecular, Hospital Vall d' Hebron, Barcelona, Spain.
Andreu
Antoni L
AL
Manfredi
Giovanni
G
Beal
M Flint
MF
Janetzky
Bernd
B
Gruenewald
Thomas H
TH
Lin
Michael T
MT
D019943:Amino Acid Substitution / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000737:chemistry* / Q000235:genetics* / Q000302:isolation & purification; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D013378:Substantia Nigra / Q000737:chemistry
D004272:DNA, Mitochondrial