Assoziation genetischer Polymorphismen der ABC-Transporterfamilie und dem Erkrankungsrisiko des Morbus Alzheimer

Einige Studien weisen darauf hin, dass die ABC-Transporter ABCB1 (P-Glykoprotein, P-gp) und ABCG2 (breast cancer resistance protein, BCRP) aktiv Abeta transportieren und so maßgeblich zur Entstehung einer Alzheimerdemenz beitragen. Da die Transportaktivität vieler ABC-Transporter unter anderem durch genetische Polymorphismen (SNPs) moduliert wird, untersuchten wir den Einfluss ausgewählter SNPs der Gene für ABCA1, ABCB1, ABCC2 und ABCG2 in cerebralen DNA-Proben histopathologisch gesichtert an Alzheimerdemenz erkrankter Personen im Vergleich zu gesunden Kontrollen.

A number of studies have demonstrated that the ATP-binding cassette (ABC) transporters P-glykoprotein (P-gp, ABCB1) and the breast cancer resistance protein (BCRP, ABCG2) actively transport beta-amyloid, thereby possibly contributing to the risk of Alzheimer`s disease (AD). Since the function of P-gp may be modulated by genetic polymorphisms, we investigated the relationship between single nucleotide polymorphisms (SNPs) of selected multidrug transporter genes (here examined ABCA1, ABCB1, ABCC2 and ABCG2)in histopathologically confirmed AD cases in comparison with controls.

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