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

Daniele Ghezzi, Cecilia Marelli, Alessandro Achilli, Stefano Goldwurm, Gianni Pezzoli, Paolo Barone, Maria Teresa Pellecchia, Paolo Stanzione, Livia Brusa, Anna Rita Bentivoglio, Ubaldo Bonuccelli, Lucia Petrozzi, Giovanni Abbruzzese, Roberta Marchese, Pietro Cortelli, Daniela Grimaldi, Paolo Martinelli, Carlo Ferrarese, Barbara Garavaglia, Simonetta SangiorgiValerio Carelli, Antonio Torroni, Alberto Albanese, Massimo Zeviani*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

167 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)748-752
Number of pages5
JournalEuropean Journal of Human Genetics
Issue number6
StatePublished - Jun 2005


  • Mitochondrial DNA haplogroups
  • Parkinson's disease
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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