Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients

J Clin Invest. 2010 Mar;120(3):713-9. doi: 10.1172/JCI41366. Epub 2010 Feb 15.

Abstract

Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness and attacks of muscle atonia triggered by strong emotions (cataplexy). Narcolepsy is caused by hypocretin (orexin) deficiency, paralleled by a dramatic loss in hypothalamic hypocretin-producing neurons. It is believed that narcolepsy is an autoimmune disorder, although definitive proof of this, such as the presence of autoantibodies, is still lacking. We engineered a transgenic mouse model to identify peptides enriched within hypocretin-producing neurons that could serve as potential autoimmune targets. Initial analysis indicated that the transcript encoding Tribbles homolog 2 (Trib2), previously identified as an autoantigen in autoimmune uveitis, was enriched in hypocretin neurons in these mice. ELISA analysis showed that sera from narcolepsy patients with cataplexy had higher Trib2-specific antibody titers compared with either normal controls or patients with idiopathic hypersomnia, multiple sclerosis, or other inflammatory neurological disorders. Trib2-specific antibody titers were highest early after narcolepsy onset, sharply decreased within 2-3 years, and then stabilized at levels substantially higher than that of controls for up to 30 years. High Trib2-specific antibody titers correlated with the severity of cataplexy. Serum of a patient showed specific immunoreactivity with over 86% of hypocretin neurons in the mouse hypothalamus. Thus, we have identified reactive autoantibodies in human narcolepsy, providing evidence that narcolepsy is an autoimmune disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autoantibodies / blood*
  • Autoantibodies / immunology
  • Autoantigens / genetics
  • Autoantigens / immunology
  • Autoantigens / metabolism*
  • Autoimmune Diseases / blood*
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology
  • Autoimmune Diseases / pathology
  • Calcium-Calmodulin-Dependent Protein Kinases
  • Female
  • Humans
  • Hypothalamus / immunology
  • Hypothalamus / metabolism
  • Hypothalamus / pathology
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / immunology
  • Intracellular Signaling Peptides and Proteins / metabolism*
  • Male
  • Mice
  • Mice, Transgenic
  • Narcolepsy / blood*
  • Narcolepsy / genetics
  • Narcolepsy / immunology
  • Narcolepsy / pathology
  • Neurons / immunology
  • Neurons / metabolism
  • Neurons / pathology
  • Neuropeptides / genetics
  • Neuropeptides / immunology
  • Neuropeptides / metabolism
  • Orexins
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / immunology
  • Protein Serine-Threonine Kinases / metabolism*
  • Severity of Illness Index
  • Sleep Initiation and Maintenance Disorders / blood
  • Sleep Initiation and Maintenance Disorders / genetics
  • Sleep Initiation and Maintenance Disorders / immunology
  • Sleep Initiation and Maintenance Disorders / pathology
  • Time Factors

Substances

  • Autoantibodies
  • Autoantigens
  • Intracellular Signaling Peptides and Proteins
  • Neuropeptides
  • Orexins
  • tribbles 2 protein, mouse
  • Protein Serine-Threonine Kinases
  • Calcium-Calmodulin-Dependent Protein Kinases
  • TRIB2 protein, human