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Complement regulator CD46: genetic variants and disease associations

M Kathryn Liszewski1, John P Atkinson2

  • 1Division of Rheumatology, Department of Medicine, Washington University School of Medicine, 660 South Euclid, Saint Louis, MO, 63110, USA. kliszews@dom.wustl.edu.

Human Genomics
|June 10, 2015
PubMed

Insights

Membrane cofactor protein (MCP; CD46) mutations cause rare diseases like atypical hemolytic uremic syndrome (aHUS). This review details known MCP mutations and their links to complement-related disorders.

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Membrane cofactor protein (MCP; CD46) is a crucial complement regulator protecting host cells.
  • It functions as a cofactor for Factor I in inactivating complement components C3b and C4b.
  • Dysregulation of MCP is implicated in various immune and inflammatory conditions.

Purpose of the Study:

  • To review and summarize disease-associated mutations in Membrane cofactor protein (MCP; CD46).
  • To highlight the link between MCP mutations and atypical hemolytic uremic syndrome (aHUS).
  • To explore emerging associations of MCP mutations with other disorders.

Main Methods:

  • Literature review of studies reporting MCP mutations.
  • Analysis of mutation databases and clinical case reports.
  • Synthesis of current knowledge on MCP genetics and pathology.

Main Results:

  • Over 60 disease-associated mutations in MCP have been identified.
  • The majority of mutations are linked to atypical hemolytic uremic syndrome (aHUS).
  • Potential links to systemic lupus erythematosus, glomerulonephritis, and pregnancy disorders are emerging.

Conclusions:

  • MCP mutations represent a significant genetic factor in complement-mediated diseases.
  • Understanding these mutations is vital for diagnosing and potentially treating conditions like aHUS.
  • Further research is warranted to fully elucidate the role of MCP in diverse pathologies.

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