NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

M. Hunter, Dora Angelicheva, I. Tournev, Evan Ingley, Dick Chan, Gerald Watts, I. Kremensky, Luba Kalaydjieva

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Hereditary Motor and Sensory Neuropathy Lom (HMSNL) is a severe autosomal recessive peripheral neuropathy, the most common form of demyelinating Charcot-Marie-Tooth (CMT) disease in the Roma (Gypsy) population. The mutated gene, N-myc downstream-regulated gene 1 (NDRG1), is widely expressed and has been implicated in a range of processes and pathways. To gain an insight into NDRG1 function we performed yeast two-hybrid screening and identified interacting proteins whose known functions suggest involvement in cellular trafficking. Further analyses, focusing on apolipoproteins A-I and A-II, confirmed their interaction with NDRG1 in mammalian cells and suggest a defect in Schwann cell lipid trafficking as a major pathogenetic mechanism in HMSNL. At the same time, the chromosomal location of NDRG1 coincides with a reported HDL-C QTL in humans and in mice. A putative role of NDRG I in the general mechanisms of HDL-mediated cholesterol transport was supported by biochemical studies of blood lipids, which revealed an association between the Gypsy founder mutation, R148X, and decreased HDL-C levels. (c) 2005 Elsevier Inc. All rights reserved.
Original languageEnglish
Pages (from-to)982-992
JournalBiochemical and Biophysical Research Communications
Volume332
Issue number4
DOIs
Publication statusPublished - 2005

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