Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
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.
Ghezzi
Daniele
D
Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy.
Marelli
Cecilia
C
Achilli
Alessandro
A
Goldwurm
Stefano
S
Pezzoli
Gianni
G
Barone
Paolo
P
Pellecchia
Maria Teresa
MT
Stanzione
Paolo
P
Brusa
Livia
L
Bentivoglio
Anna Rita
AR
Bonuccelli
Ubaldo
U
Petrozzi
Lucia
L
Abbruzzese
Giovanni
G
Marchese
Roberta
R
Cortelli
Pietro
P
Grimaldi
Daniela
D
Martinelli
Paolo
P
Ferrarese
Carlo
C
Garavaglia
Barbara
B
Sangiorgi
Simonetta
S
Carelli
Valerio
V
Torroni
Antonio
A
Albanese
Alberto
A
Zeviani
Massimo
M
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
D004272:DNA, Mitochondrial