Genotype in the 24-kDa Subunit Gene (NDUFV2) of Mitochondrial Complex I and Susceptibility to Parkinson Disease
Identifieur interne : 001E91 ( Main/Exploration ); précédent : 001E90; suivant : 001E92Genotype in the 24-kDa Subunit Gene (NDUFV2) of Mitochondrial Complex I and Susceptibility to Parkinson Disease
Auteurs : Nobutaka Hattori [Japon] ; Hiroyo Yoshino [Japon] ; Masashi Tanaka [Japon] ; Hiroshi Suzuki [Japon] ; Yoshikuni Mizuno [Japon]Source :
- Genomics [ 0888-7543 ] ; 1997.
English descriptors
Abstract
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 (χ2= 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.
Url:
DOI: 10.1006/geno.1997.5192
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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 (χ2= 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.</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></noRegion><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><name sortKey="Suzuki, Hiroshi" sort="Suzuki, Hiroshi" uniqKey="Suzuki H" first="Hiroshi" last="Suzuki">Hiroshi Suzuki</name><name sortKey="Tanaka, Masashi" sort="Tanaka, Masashi" uniqKey="Tanaka M" first="Masashi" last="Tanaka">Masashi Tanaka</name><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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