R. Romling et al., A NONSENSE MUTATION IN THE APOLIPOPROTEIN-A-I GENE IS ASSOCIATED WITHHIGH-DENSITY-LIPOPROTEIN DEFICIENCY AND PERIORBITAL XANTHELASMAS, Arteriosclerosis and thrombosis, 14(12), 1994, pp. 1915-1922
Conflicting data from epidemiological trials, genetic family studies,
transgenic animal models, and in vitro experiments have created contro
versy regarding the importance of HDL and apolipoprotein (ape) A-I for
reverse cholesterol transport and protection from atherosclerosis. In
this study we identified a homozygous nonsense mutation in codon 32 (
Q32X) of the apoA-I gene as the molecular basis of apoA-I deficiency i
n a 31-year-old woman who did not present with clinical signs of ather
osclerosis. Despite half-normal plasma concentrations of HDL cholester
ol and apoA-I in subjects heterozygous for this mutation, the history
of the patient's large family did not indicate any increased prevalenc
e of myocardial infarction.