Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease

Kenya Nishioka, Carles Vilariño-Güell, Stephanie A. Cobb, Jennifer M. Kachergus, Owen A. Ross, Emna Hentati, Faycal Hentati, Matthew J. Farrer

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


NADH dehydrogenase ubiquinone flavoprotein 2 (NDUFV2), encoding a subunit of mitochondrial complex I, is a candidate gene for several neuronal diseases; schizophrenia, bipolar disorder and Parkinson disease (PD). We screened the entire coding region of NDUFV2 in 33 familial PD patients of North African Arab-Berber ethnicity in which all known genetic forms of PD had been excluded. We detected one novel substitution p.K209R (c.626A > G) in one PD proband. Segregation analysis within the family is inconclusive due to small sample size, but consistent with an autosomal dominant mode of inheritance. Subsequent screening of this mutation in ethnically matched sporadic PD patients (n =238) and controls (n =371) identified p.K209R in one additional patient. The clinical features of the mutation carriers revealed a mild form of parkinsonism with a prognosis similar to idiopathic PD. Our findings suggest further studies addressing the role of NDUFV2 variation in PD may be warranted.

Original languageEnglish (US)
Pages (from-to)686-687
Number of pages2
JournalParkinsonism and Related Disorders
Issue number10
StatePublished - Dec 2010


  • Genetics
  • Mutation
  • NDUFV2
  • Parkinson disease

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology


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