Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

TitleMitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
Publication TypeJournal Article
Year of Publication2005
AuthorsGhezzi, D, Marelli, C, Achilli, A, Goldwurm, S, Pezzoli, G, Barone, P, Pellecchia, MTeresa, Stanzione, P, Brusa, L, Bentivoglio, ARita, Bonuccelli, U, Petrozzi, L, Abbruzzese, G, Marchese, R, Cortelli, P, Grimaldi, D, Martinelli, P, Ferrarese, C, Garavaglia, B, Sangiorgi, S, Carelli, V, Torroni, A, Albanese, A, Zeviani, M
JournalEur J Hum Genet
Date Published2005 Jun
KeywordsAge of Onset, Aged, Case-Control Studies, Cohort Studies, DNA, Mitochondrial, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Italy, Male, Middle Aged, Parkinson Disease, Polymorphism, Single Nucleotide, Risk Factors

It has been proposed that European mitochondrial DNA (mtDNA) haplogroups J and K, and their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene, are protective from Parkinson's disease (PD). We evaluated the distribution of the different mtDNA haplogroups in a large cohort of 620 Italian patients with adult-onset (>50, <65 years of age) idiopathic PD vs two groups of ethnic-matched controls. Neither the frequencies of haplogroup J nor that of 10398G were significantly different. However, the frequency of haplogroup K was significantly lower in PD. Stratification by sex and age indicated that the difference in the distribution of haplogroup K was more prominent in >50 year old males. In spite of the common 10398G SNP, haplogroups J and K belong to widely diverging mitochondrial clades, a consideration that may explain the different results obtained for the two haplogroups in our cohorts. Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD.

Alternate JournalEur. J. Hum. Genet.
Citation Key10.1038/sj.ejhg.5201425
PubMed ID15827561
Grant ListGGP030039 / / Telethon / Italy