The apoptosis modulating role of SAP (SLAM associated protein) contributes to the symptomatology of the X linked lymphoproliferative disease

Cell Cycle. 2009 Oct 1;8(19):3086-90. doi: 10.4161/cc.8.19.9636. Epub 2009 Oct 27.

Abstract

Deletion or mutation of the SH2D1A gene located at Xq25 is responsible for the development of the X-linked lymphoproliferative disease, XLP. Primary infection of the affected individuals with EBV leads to fulminant and often fatal infectious mononucleosis, FIM. Moreover, they run a 200 fold elevated risk for lymphoma development. Due to the critical role of the immune response for the outcome of EBV infection and the detection of EBV genomes in several malignancies, XLP studies have been mainly focused on the immunological aspects. The involvement of SAP in the apoptotic machinery provides a further aspect in the complex syndrome of XLP. Functional impairment of SAP leads to defective apoptotic responses. Activation induced apoptosis plays a pivotal role in the termination of the lymphocyte proliferation in IM. This mechanism is inefficient in XLP patients. In addition, in the absence of SAP, lymphoma development may be promoted by the illegitimate survival of lymphocytes with damaged DNA that would be normally eliminated by apoptosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / metabolism
  • Apoptosis*
  • Cell Cycle Proteins / metabolism
  • Epstein-Barr Virus Infections / immunology
  • Epstein-Barr Virus Infections / metabolism
  • Genetic Diseases, X-Linked / metabolism*
  • Herpesvirus 4, Human
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / physiology*
  • Lymphoproliferative Disorders / metabolism*
  • Repressor Proteins / metabolism
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Tumor Suppressor Protein p53 / metabolism
  • Valosin Containing Protein

Substances

  • Cell Cycle Proteins
  • Intracellular Signaling Peptides and Proteins
  • NFX1 protein, human
  • Repressor Proteins
  • SH2D1A protein, human
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Tumor Suppressor Protein p53
  • Adenosine Triphosphatases
  • Valosin Containing Protein