title: Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
abstract: 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.
authors.affiliation: Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Ghezzi
authors.forename: Cecilia
authors.initials: C
authors.lastname: Marelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Achilli
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
authors.forename: Paolo
authors.initials: P
authors.lastname: Barone
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Pellecchia
authors.forename: Paolo
authors.initials: P
authors.lastname: Stanzione
authors.forename: Livia
authors.initials: L
authors.lastname: Brusa
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Bonuccelli
authors.forename: Lucia
authors.initials: L
authors.lastname: Petrozzi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Abbruzzese
authors.forename: Roberta
authors.initials: R
authors.lastname: Marchese
authors.forename: Pietro
authors.initials: P
authors.lastname: Cortelli
authors.forename: Daniela
authors.initials: D
authors.lastname: Grimaldi
authors.forename: Paolo
authors.initials: P
authors.lastname: Martinelli
authors.forename: Carlo
authors.initials: C
authors.lastname: Ferrarese
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
authors.forename: Simonetta
authors.initials: S
authors.lastname: Sangiorgi
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
authors.forename: Antonio
authors.initials: A
authors.lastname: Torroni
authors.forename: Alberto
authors.initials: A
authors.lastname: Albanese
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
mesh_terms: D017668:Age of Onset; D000368:Aged; D016022:Case-Control Studies; D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D004272:DNA, Mitochondrial