Association of HDL deficiency with a novel mutation in the ABCA1 gene

G U Denk; C Aslanidis; G Schmitz; K G Parhofer; T Pusl

doi:10.1055/s-0030-1254138

Association of HDL deficiency with a novel mutation in the ABCA1 gene

Exp Clin Endocrinol Diabetes. 2011 Jan;119(1):53-5. doi: 10.1055/s-0030-1254138. Epub 2010 Jun 8.

Authors

G U Denk¹, C Aslanidis, G Schmitz, K G Parhofer, T Pusl

Affiliation

¹ Medizinische Klinik und Poliklinik II, Klinikum der Universität München - Campus Großhadern, München.

PMID: 20533173
DOI: 10.1055/s-0030-1254138

Abstract

The ATP-binding cassette transporter A1 (ABCA1) is a membrane-bound protein that is abundant in macrophages and is essential for the first step of reverse cholesterol transport and maintenance of homeostasis of high-density lipoprotein (HDL)-bound cholesterol. Low serum HDL levels are associated with increased risk for cardiovascular disease. Homozygous and heterozygous mutations in the ABCA1 gene may be associated with increased atherosclerosis. Here we report about two heterozygous mutations c.5398A>C and c.2369G>A in the ABCA1 gene associated with HDL cholesterol deficiency in serum.

Publication types

Case Reports

MeSH terms

ATP Binding Cassette Transporter 1
ATP-Binding Cassette Transporters / genetics*
Cholesterol, HDL / blood
Cholesterol, HDL / genetics*
Humans
Hypoalphalipoproteinemias / genetics*
Middle Aged
Mutation

Substances

ABCA1 protein, human
ATP Binding Cassette Transporter 1
ATP-Binding Cassette Transporters
Cholesterol, HDL