The CYP2D6B mutant allele is overrepresented in the Lewy body variant of Alzheimer's disease.
Approximately one-fourth of neuropathologically confirmed cases of Alzheimer's disease (AD) also have brainstem and neocortical Lewy bodies, constituting a Lewy body variant of AD. Because Lewy bodies are a pathologic hallmark of Parkinson's disease (PD), this subpopulation of AD subjects may have the same risk factors as PD subjects. Analyses of the cytochrome P450 CYP2D6-debrisoquine 4-hydroxylase mutant B allele, a susceptibility gene for PD, revealed a higher representation of this allele in the Lewy body variant of AD than in pure AD or non-AD without Lewy bodies.
Saitoh
T
T
Department of Neurosciences, School of Medicine, UCSD, La Jolla 92093-0624.
Xia
Y
Y
Chen
X
X
Masliah
E
E
Galasko
D
D
Shults
C
C
Thal
L J
LJ
Hansen
L A
LA
Katzman
R
R
D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002871:Chromosome Banding; D019389:Cytochrome P-450 CYP2D6; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D066298:In Vitro Techniques; D016631:Lewy Bodies / Q000473:pathology; D006899:Mixed Function Oxygenases / Q000235:genetics*; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors
D003577:Cytochrome P-450 Enzyme System; D006899:Mixed Function Oxygenases; D019389:Cytochrome P-450 CYP2D6