载脂蛋白B
生物
脂肪热
低胆固醇血症
先证者
内科学
人口
点突变
遗传学
乳糜微粒
外显子
内分泌学
脂肪肝
突变
胆固醇
脂蛋白
极低密度脂蛋白
基因
医学
环境卫生
疾病
作者
R. Martín-Morales,Juan de Dios García-Díaz,Patrizia Tarugi,Pedro González-Santos,P. Saavedra-Vallejo,Lucia Magnolo,José María Mesa-Latorre,Enza Di Leo,Pedro Valdivielso
出处
期刊:Gene
[Elsevier]
日期:2013-11-01
卷期号:531 (1): 92-96
被引量:9
标识
DOI:10.1016/j.gene.2013.08.049
摘要
Extremely low LDL-cholesterol concentrations are very unusual and generally related with comorbidities accompanying malnutrition. Less frequently low LDL-cholesterol levels result from mutations in the APOB, PCSK9, ANGPTL3, SAR1B and MTTP genes (primary hypobetalipoproteinemia). We investigated three patients with plasma LDL-cholesterol levels below the fifth percentile of the Spanish population. We recorded data on demographic and anthropometric characteristics, life style habits, physical examination, liver ultrasound and lipid and lipoprotein levels, in the probands and their first-degree relatives. Secondary causes of hypocholesterolemia were ruled out by clinical study, complementary tests and follow-up. The APOB, MTTP and SAR1B genes were sequenced. Patients were found to be heterozygotes for point mutations located in the exon 26 of the APOB gene. One patient, with fatty liver, carried a previously described mutation (c.7600C > T) (Arg2507X), causing the formation of truncated Apo B-55.25. The other two mutations producing truncations are new. One asymptomatic patient carried the Arg3672X (Apo B-80.93) and the other with fatty liver and steatorrhea carried the Ser2184fsVal2193X (Apo B-48.32). Our study reinforces the concept that in the heterozygous carriers of truncated Apo Bs, the clinical manifestations of FHBL are dependent on the size of the truncations.
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