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Mutations in CD46, a complement regulatory protein, predispose to atypical HUS

Lookup NU author(s): Professor Tim Goodship, Dr Liz Kemp

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Abstract

Membrane cofactor protein (MCP, CD46) is a widely expressed transmembrane complement regulator. As does the soluble regulator factor H, it inhibits complement activation by inactivating the C3b that is deposited on target membranes. Factor H mutations have been described in 15-30% of patients with atypical haemolytic uraemic syndrome (HUS). Recent studies have identified mutations in the MCP gene in four families. In one, a heterozygous deletion resulted in the intracellular retention of the mutant protein. In another, a different heterozygous deletion led to a premature stop codon and the loss of the C-terminus. In the other two, a substitution (S206P) resulted in cell-surface expression but inefficient inactivation of surface-bound C3b. These findings provide further evidence that complement dysregulation predisposes to the development of HUS.

Publication metadata

Author(s): Goodship THJ, Liszewski MK, Kemp EJ, Richards A, Atkinson JP

Publication type: Article

Publication status: Published

Journal: Trends in Molecular Medicine

Year: 2004

Volume: 10

Issue: 5

Pages: 226-231

Print publication date: 01/05/2004

ISSN (print): 1471-4914

ISSN (electronic): 1471-499X

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.molmed.2004.03.006

DOI: 10.1016/j.molmed.2004.03.006

PubMed id: 15121049

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