Neurology Medical News about Parkinsons disease;polymorphism in the ABCB1 gene

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Association of a polymorphism in the ABCB1 gene with Parkinson's disease
Parkinsonism & Related Disorders, 06/25/09

Westerlund M et al. – Altered ATP-binding cassette, sub-family B, member 1 (ABCB1) gene and/or protein P-glycoprotein (P-gp) in Parkinson's disease (PD) pts is reported, and impaired drug efflux across barriers (eg, gastrointestinal/nasal mucosal linings; blood–brain barrier) may result in accumulation of drugs and/or endogenous molecules in toxic amounts, possibly contributing to disease. ABCB1 polymorphisms show genetic predisposition and environmental influences may combine to increase risk of PD.

Methods

Study of the ABCB1 single nucleotide polymorphisms (SNPs) 1236C/T (exon 12), 2677G/T/A (exon 21) and 3435C/T (exon 26) in 288 Swedish PD pts and 313 controls

Results

Significant association of SNP 1236C/T with disease
Distributions of wild-type and mutated alleles similar for 2677G/T/A and 3435C/T in pts and controls
Significant association of 1236C–2677G haplotype with PD
Trend towards association with disease of 1236C–2677G–3435C haplotype

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