title: [Familial apolipoprotein A-I variants].
abstract: Apolipoprotein (apo) A-I is the major apolipoprotein of HDL and is a single polypeptide chain with 243 amino acid residues. Familial apo A-I deficiency is a rare metabolic disorder of which 13 cases have been characterized at the molecular level. However, in subjects with apo A-I deficiency, coronary artery disease is not always present. To date, more than 40 genetically determined structural variants of apo A-I have been identified. Seven apo A-I mutations have been identified to cause hereditary amyloidosis. In our laboratory, we characterized ten apo A-I variants, including apo A-I(Vall56Glu) Oita. A minority of structural variants were associated with altered HDL cholesterol levels or increased risk for cardiovascular disease.
authors.affiliation: Second Department of Internal Medicine, School of Medicine, Fukuoka University.
authors.forename: A
authors.initials: A
authors.lastname: Matsunaga
mesh_terms: D000686:Amyloidosis / Q000235:genetics; D016632:Apolipoprotein A-I / Q000172:deficiency* / Q000235:genetics; D006801:Humans
chemical_list: D016632:Apolipoprotein A-I