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J. Biol. Chem., Vol. 266, Issue 21, 13654-13660, 07, 1991
SS Deeb, MC Cheung, RL Peng, AC Wolf, R Stern, JJ Albers and RH Knopp
Epidemiologic and genetic data suggest an inverse relationship between
plasma high density lipoprotein (HDL) cholesterol and the incidence of
premature coronary artery disease. Some of the defects leading to low
levels of HDL may be a consequence of mutations in the genes coding for HDL
apolipoproteins A-I and A-II or for enzymes that modify these particles. A
proband with plasma apoA-I and HDL cholesterol that are below 15% of normal
levels and with marked bilateral arcus senilis was shown to be heterozygous
for a 45-base pair deletion in exon four of the apoA-I gene. This most
likely represents a de novo mutation since neither parent carries the
mutant allele. The protein product of this allele is predicted to be
missing 15 (Glu146-Arg160) of the 22 amino acids comprising the third
amphipathic helical domain. The HDL of the proband and his family were
studied. Using anti-A-I and anti-A-II immunosorbents we found three
populations of HDL particles in the proband. One contained both apoA-I and
A-II, Lp(A-I w A-II); one contained apoA-I but no A-II, Lp(A-I w/o A-II);
and the third (an unusual one) contained apoA-II but no A-I. Only Lp(A-I w
A-II) and (A-I w/o A-II) were present in the plasma of the proband's
parents and brother. Analysis of the HDL particles of the proband by sodium
dodecyl sulfate-polyacrylamide gel electrophoresis revealed two protein
bands with a molecular mass differing by 6% in the vicinity of 28 kDa
whereas the HDL particles of the family members exhibited only a single
apoA-I band. The largely dominant effect of this mutant allele (designated
apoA-ISeattle) on HDL levels suggests that HDL particles containing any
number of mutant apoA-I polypeptides are catabolized rapidly.
A mutation in the human apolipoprotein A-I gene. Dominant effect on the level and characteristics of plasma high density lipoproteins
Department of Medicine, University of Washington School of Medicine, Seattle.
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