Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease.
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.
Nishioka
Kenya
K
Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Vilariño-Güell
Carles
C
Cobb
Stephanie A
SA
Kachergus
Jennifer M
JM
Ross
Owen A
OA
Hentati
Emna
E
Hentati
Faycal
F
Farrer
Matthew J
MJ
D000352:Africa, Northern; D017668:Age of Onset; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D004247:DNA / Q000235:genetics; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009245:NADH Dehydrogenase / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism*; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
D004247:DNA; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C492562:NDUFV2 protein, human