Variable Expression of Hypercholesterolemia in Apolipoprotein E2* (Arg136 ®
Cys) Heterozygotes
J. A. Hubáček1, 2,
J. Piťha1, P. Stávek1,
G. Schmitz2, R. Poledne1
1Institute for Clinical and Experimental Medicine, Prague, Czech
Republic, and
2Institute for Clinical and Laboratory Medicine, University of
Regensburg, Regensburg, Germany
Received July 28, 1999
Accepted January 11, 2000
Summary
In the process of population screening for apo E gene
polymorphism with the PCR and subsequent restriction analysis, we identified a
female who demonstrated heterozygosity for an unusual restriction fragment
caused by the loss of a CfoI restriction site. Sequence analysis of the apo E
gene was performed and a carrier of the mutant allele with C ®
T substitution at cDNA position 3817 was identified, which caused an Arg136 ®
Cys change. The first-line relatives have been screened for this rare mutation
with PCR and restriction analysis of PCR products. The complete lipoprotein
parameters have been determined in the probands family. In the family, only one
child had the same mutant allele as his mother had. The proband (7.49 mmol/l)
with her siblings had hypercholesterolemia and a high body mass index (BMI 31.6 kg/m2).
By contrast, her son had a normal lipid spectrum with normal BMI. We described
the mutation apo E2* (Arg136 ® Cys) in a
family with elevated lipid levels, but there was no confirmation of the
connection between this mutation and type III hyperlipoproteinemia or
hyperlipoproteinemia at all. In the case of this mutation, other factors (mainly
genetic) are important for the development of lipid metabolism disorders.
Key words
Apolipoprotein E · PCR ·
DNA sequencing · Rare mutation ·
Lipid metabolism
Reprint requests
Jaroslav A. Hubáček PhD, Laboratory of Atherosclerosis
Research, Institute for Clinical and Experimental Medicine, Vídeňská 1958/9,
140 21, Prague 4, Czech Republic. fax: 00420 2 47 21 574, e-mail: jaroslav.hubacek@medicon.cz
|