期刊
PARKINSONISM & RELATED DISORDERS
卷 16, 期 10, 页码 686-687出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2010.09.007
关键词
Parkinson disease; NDUFV2; Mutation; Genetics
资金
- Morris K. Udall Center at Mayo Clinic Jacksonville, National Institute of Neurological Disorders and Stroke [P50 NS40256, R21 NS64885]
- Michael J Fox Foundation for Parkinson's Research
- Eli-Lilly
NADH dehydrogenase ubiquinone flavoprotein 2 (NDUFV2), encoding a subunit of mitochondria] 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. (C) 2010 Elsevier Ltd. All rights reserved.
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