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 >50year 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.
Mitochondrial DNA haplogroup K is associated with lower risk of Parkinson's disease in Italians / D. Ghezzi, C. Marelli, A. Achilli, S. Goldwurm, G. Pezzoli, P. Barone, P. Stanzione, A. Bentivoglio, U. Bonuccelli, G. Abruzzese, P. Cortelli, P. Martinelli, C. Ferrarese, S. Sangiorgi, B. Garavaglia, V. Carelli, A. Torroni, A. Albanese, M. Zeviani. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1476-5438. - 13:6(2005), pp. 748-752. [10.1038/sj.ejhg.5201425]
Mitochondrial DNA haplogroup K is associated with lower risk of Parkinson's disease in Italians
D. GhezziPrimo
;
2005
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 >50year 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.File | Dimensione | Formato | |
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