Distribution of apolipoprotein E phenotypes in Friedreich's ataxia
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Published:1984-11
Issue:S4
Volume:11
Page:626-630
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ISSN:0317-1671
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Container-title:Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
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language:en
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Short-container-title:Can. J. Neurol. Sci.
Author:
Bouthillier D.,Nestruck A.C.,Milne R.,Sing C.F.,Barbeau A.,Davignon J.
Abstract
AbstractAllelic polymorphism at the apolipoprotein E (apo E) gene locus (alleles ɛ2, ɛ3 and ɛ4) is responsible for the existence of 6 discrete electrophoretic phenotypes of plasma apo E. Since the presence of the ɛ2 allele in the genotype tends to be associated with higher triglyceride levels, a study was undertaken to determine if a higher frequency of this allele could account for the presence of higher plasma triglycerides in subsets of patients with Friedreich's Ataxia. The frequency of the apo E phenotypes was determined in 37 subjects with Friedreich's Ataxia and compared with that of 102 normolipidemic and 102 hyperlipidemic individuals. There was no increased prevalence of the E3/2 phenotype and the ɛ2 allele in the Friedreich's sample as is found in a hyperlipidemic sample. Furthermore, the ɛ2 subset did not have significantly higher plasma triglycerides than the non-ɛ2 subset and the hypothesis was rejected. On the other hand, there was a trend for a decreased frequency of the E4/3 phenotype in the Friedreich's sample relative to the hyperlipidemic group but the difference did not reach statistical significance. The apo E phenotype distribution was also measured in a smaller sample of Charlevoix-Saguenay disease; this led to the discovery of two siblings with the relatively rare E2/2 phenotype and unexpectedly low levels of plasma lipid and lipoprotein concentrations. Plasma apolipoprotein E concentrations in both diseases were within the normal range except for subjects bearing the E2/2 phenotype.
Publisher
Cambridge University Press (CUP)
Subject
Neurology (clinical),Neurology,General Medicine
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