Narcolepsy and the HLA region

J Neuroimmunol. 2001 Jul 2;117(1-2):9-20. doi: 10.1016/s0165-5728(01)00333-2.

Abstract

Narcolepsy was first shown to be tightly associated with HLA-DR2 and DQ1 in 1983, suggesting a possible autoimmune mechanism. Early investigations failed to demonstrate this hypothesis, postulating that HLA-DR2 was only a linkage marker for another, unknown narcolepsy-causing gene. The autoimmune hypothesis is now being re-evaluated under the light of recent results. Like many other autoimmune disorders, narcolepsy usually starts during adolescence, is human leukocyte antigen (HLA)-associated, multigenic and environmentally influenced. Furthermore, HLA-association studies indicated a primary HLA-DQ effect with complex HLA class II allele interactions and a partial contribution of HLA to overall genetic susceptibility. Finally, recent result suggests that human narcolepsy is associated with the destruction of a small number of hypothalamic neurons containing the peptide hypocretins (orexins). This data is consistent with an immune destruction of hypocretin-containing cells as the most common etiology for human narcolepsy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Autoimmunity
  • Carrier Proteins / physiology
  • Dogs
  • HLA-DQ Antigens / chemistry
  • HLA-DQ Antigens / genetics*
  • HLA-DQ Antigens / physiology
  • HLA-DR2 Antigen / chemistry
  • HLA-DR2 Antigen / genetics*
  • HLA-DR2 Antigen / physiology
  • Humans
  • Intracellular Signaling Peptides and Proteins*
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Narcolepsy / immunology*
  • Narcolepsy / pathology
  • Narcolepsy / therapy
  • Neuropeptides / physiology
  • Orexins
  • Structure-Activity Relationship

Substances

  • Carrier Proteins
  • HLA-DQ Antigens
  • HLA-DQ1 antigen
  • HLA-DR2 Antigen
  • Intracellular Signaling Peptides and Proteins
  • Neuropeptides
  • Orexins