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

Experimental and Clinical Endocrinology & Diabetes, Table of Contents

Exp Clin Endocrinol Diabetes 2011; 119(1): 53-55
DOI: 10.1055/s-0030-1254138

Short Communication

Association of HDL Deficiency with a Novel Mutation in the ABCA1 Gene

G. U. Denk¹ , C. Aslanidis² , G. Schmitz² , K. G. Parhofer¹ , T. Pusl³

¹Medizinische Klinik und Poliklinik II, Klinikum der Universität München – Campus Großhadern, München
²Institut für Klinische Chemie und Laboratoriumsmedizin, Klinikum der Universität Regensburg, Regensburg
³1. Medizinische Klinik, Klinikum Augsburg, Augsburg

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.

Key words

low HDL - hypoalphalipoproteinaemia - Tangier disease

Full Text

References

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Correspondence

Prof. Dr. med. K. G. Parhofer

Medizinische Klinik und

Poliklinik II

Klinikum der Universität

München – Campus

Großhadern

Marchioninistraße 15

81377 München

Phone: +49/89/7095 3010

Fax: +49/89/7095 8879

Email: klaus.parhofer@med.uni-muenchen.de