Association of a polymorphism in the dopamine-transporter gene with parkinson's disease

✍ Scribed by Dr. David G. le Couteur; Peter W. Leighton; Sally J. McCann; Susan M. Pond

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 341 KB
• Volume: 12
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.870120523

✦ Synopsis

Abstract

The presynaptic dopamine transporter in nigral dopaminergic neurons confers susceptibility to the cytotoxic effects of the neurotoxic metabolite of 1‐methy1‐4‐phenyl‐1,2,3,6‐tetrahydropyridine. Polymorphisms in the dopamine transporter might influence the susceptibility to such toxins. Therefore, we investigated whether a polymorphic region in the 3′‐untranslated region of the dopamine‐transporter gene is associated with idiopathic Parkinson's disease (PD). The frequency distribution of the alleles was significantly different between the patients (n = 100) and controls (n = 200, p < 0.05). The rare 11‐copy allele was more common in the patients (odds ratio = 10.2, 95% confidence interval = 1.2‐87.9, p < 0.025). The susceptibility of some people to PD may be conferred by polymorphisms in the dopamine‐transporter gene that could lead to increased cellular accumulation of neurotoxic compounds in dopaminergic neurons.