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Distribution of apolipoprotein E phenotypes in Friedreich's ataxia

Published online by Cambridge University Press:  18 September 2015

D. Bouthillier ,
A.C. Nestruck ,
R. Milne ,
C.F. Sing ,
A. Barbeau  and
J. Davignon
D. Bouthillier
Affiliation:
Clinical Research Institute of Montreal, and Department of Human Genetics
A.C. Nestruck
Affiliation:
Clinical Research Institute of Montreal, and Department of Human Genetics
R. Milne
Affiliation:
Clinical Research Institute of Montreal, and Department of Human Genetics
C.F. Sing
Affiliation:
Department of Human Genetics, University of Michigan
A. Barbeau*
Affiliation:
Clinical Research Institute of Montreal, and Department of Human Genetics
J. Davignon
Affiliation:
Clinical Research Institute of Montreal, and Department of Human Genetics
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada, H2W IR7
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Abstract

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Allelic 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.

Type
C—Biochemistry
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 626 - 630
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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