RGD Reference Report - Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease. - Rat Genome Database

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Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease.

Authors: Hattori, N  Yoshino, H  Tanaka, M  Suzuki, H  Mizuno, Y 
Citation: Hattori N, etal., Genomics. 1998 Apr 1;49(1):52-8.
RGD ID: 2302386
Pubmed: PMID:9570948   (View Abstract at PubMed)
DOI: DOI:10.1006/geno.1997.5192   (Journal Full-text)

We analyzed the gene encoding the 24-kDa subunit of mitochondrial complex I, which has been implicated in the pathogenesis of Parkinson disease (PD). We set out to identify a polymorphism in the 24-kDa subunit gene (NDUFV2) in patients with PD and determine whether genetic polymorphism of this gene is associated with a higher risk of PD. The subjects comprised 126 patients with PD, and the control group comprised 113 unrelated individuals without neurodegenerative disorders. A novel polymorphism (Ala29Val) in the mitochondrial targeting sequence of NDUFV2 was found in patients with PD. The distribution of the three genotypes was significantly different between the two groups (chi 2 = 7.53, df = 2, P = 0.023). The frequency of homozygotes for the mutation was significantly higher in PD patients (23.8%) than in control subjects (11.5%, Fisher's exact test, P = 0.0099 < 0.01). The risk of developing PD associated with homozygosity for this mutation was calculated as 2.40 (95% CI: 1.18-4.88). NDUFV2 constitutes one genetic risk factor for PD, and the mutation may well be a cause of complex I deficiency in this disease.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NDUFV2HumanParkinson's disease susceptibilityIAGP DNA:polymorphism: :p.A29VRGD 
Ndufv2RatParkinson's disease susceptibilityISONDUFV2 (Homo sapiens)DNA:polymorphism: :p.A29VRGD 
Ndufv2MouseParkinson's disease susceptibilityISONDUFV2 (Homo sapiens)DNA:polymorphism: :p.A29VRGD 

Objects Annotated

Genes (Rattus norvegicus)
Ndufv2  (NADH:ubiquinone oxidoreductase core subunit V2)

Genes (Mus musculus)
Ndufv2  (NADH:ubiquinone oxidoreductase core subunit V2)

Genes (Homo sapiens)
NDUFV2  (NADH:ubiquinone oxidoreductase core subunit V2)


Additional Information