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Congenital Defects in the Expression of the Glycosylphosphatidylinositol-Anchored Complement Regulatory Proteins CD59

Taroh Kinoshita1

  • 1Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka 565-0871, Japan.

Seminars in Hematology
|July 24, 2018
PubMed

Insights

Defective CD59 or decay-accelerating factor (DAF) proteins, crucial for regulating complement activation, can cause clinical symptoms. Eculizumab, an anti-C5 antibody, effectively treats these complement dysregulation disorders.

Area of Science:

  • Immunology
  • Genetics

Background:

  • CD59 and decay-accelerating factor (DAF) are key glycosylphosphatidylinositol (GPI)-anchored proteins regulating complement.
  • Defects in CD59, DAF, or GPI biosynthesis genes (e.g., PIGA, PIT, PIGM) lead to complement dysregulation.
  • This dysregulation, particularly involving the C5 component, is linked to various clinical symptoms.

Purpose of the Study:

  • To highlight the role of CD59 and DAF in complement regulation.
  • To underscore the clinical significance of genetic defects affecting these proteins and GPI biosynthesis.
  • To emphasize the therapeutic potential of targeting the C5 component.

Main Methods:

  • Review of literature on CD59, DAF, and complement pathways.
  • Analysis of genetic mutations impacting GPI-anchored proteins.
  • Evaluation of therapeutic strategies for complement dysregulation.

Main Results:

  • Mutations in CD59, DAF, or associated GPI biosynthesis genes result in complement dysregulation.
  • Dysregulated complement activation, especially C5, underlies associated clinical manifestations.
  • Eculizumab demonstrates efficacy in managing symptoms of complement dysregulation.

Conclusions:

  • CD59 and DAF are essential for preventing host cell damage from complement activation.
  • Genetic defects impacting these proteins necessitate therapeutic interventions.
  • Targeting the C5 complement component with therapies like eculizumab offers a viable treatment approach.

Keywords:
CD59ComplementDecay-accelerating factor (DAF)Glycosylphosphatidylinositol (GPI)Inherited GPI deficiency (IGD)Paroxysmal nocturnal hemoglobinuria (PNH)

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