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Titolo:
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
Autore:
Rust, S; Rosier, M; Funke, H; Real, J; Amoura, Z; Piette, JC; Deleuze, JF; Brewer, HB; Duverger, N; Denefle, P; Assmann, G;
Indirizzi:
Univ Munster, Inst Arterioskleroseforsch, D-48149 Munster, Germany Univ Munster Munster Germany D-48149 oseforsch, D-48149 Munster, Germany Rhone Poulenc Rorer, Core Genom Biotechno Dept, F-91006 Evry, France RhonePoulenc Rorer Evry France F-91006 echno Dept, F-91006 Evry, France Rhone Poulenc Rorer, Dept Cardiovasc, F-91006 Evry, France Rhone Poulenc Rorer Evry France F-91006 Cardiovasc, F-91006 Evry, France Univ Munster, Inst Klin Chem & Lab Med, D-48149 Munster, Germany Univ Munster Munster Germany D-48149 & Lab Med, D-48149 Munster, Germany Univ Valencia, Dept Med, Hosp Clin, Valencia 46010, Spain Univ Valencia Valencia Spain 46010 Med, Hosp Clin, Valencia 46010, Spain Hop La Pitie Salpetriere, Serv Med Interne, Paris, France Hop La Pitie Salpetriere Paris France , Serv Med Interne, Paris, France NHLBI, NIH, Bethesda, MD 20892 USA NHLBI Bethesda MD USA 20892NHLBI, NIH, Bethesda, MD 20892 USA
Titolo Testata:
NATURE GENETICS
fascicolo: 4, volume: 22, anno: 1999,
pagine: 352 - 355
SICI:
1061-4036(199908)22:4<352:TDICBM>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL INTRAHEPATIC CHOLESTASIS; ABC TRANSPORTERS; A-I; RECEPTOR; CHOLESTEROL; CLONING; 9Q31;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Rust, S Univ Munster, Inst Arterioskleroseforsch, Domagkstr 3, D-48149 Munster, Germany Univ Munster Domagkstr 3 Munster Germany D-48149 Munster, Germany
Citazione:
S. Rust et al., "Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1", NAT GENET, 22(4), 1999, pp. 352-355

Abstract

Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island(1). This autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy and frequently premature coronary artery disease(1) (CAD). In heterozygotes, HDL-C levels are about one-half those of normal individuals(1). Impaired cholesterol efflux from macrophages leads to the presence of foam cells throughout the body,which may explain the increased risk of coronary heart disease in some TD families(2). We report here refining of our previous linkage of the TD gene(3) to a 1-cM region between markers D9S271 and D9S1866 on chromosome 9q31,in which we found the gene encoding human ATP cassette-binding transporter1 (ABC1). We also found a change in ABC1 expression level on cholesterol loading of phorbol ester-treated THP1 macrophages, substantiating the role of ABC1 in cholesterol efflux. We cloned the full-length cDNA and sequenced the gene in two unrelated families with four TD homozygotes. In the first pedigree, a 1-bp deletion in exon 13, resulting in truncation of the predicted protein to approximately one-fourth of its normal size, co-segregated with the disease phenotype. An in-frame insertion-deletion in exon 12 was found in the second family. Our findings indicate that defects in ABC1, encoding a member of the ABC transporter superfamily, are the cause of TD.

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Documento generato il 29/03/20 alle ore 09:28:33