Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia

J Exp Med. 2019 Oct 7;216(10):2348-2361. doi: 10.1084/jem.20190701. Epub 2019 Jul 23.

Abstract

Both α-tryptase and β-tryptase are preferentially expressed by human mast cells, but the purpose of α-tryptase is enigmatic, because its tetramers lack protease activity, whereas β-tryptase tetramers are active proteases. The monogenic disorder called hereditary α-tryptasemia, due to increased α-tryptase gene copies and protein expression, presents with clinical features such as vibratory urticaria and dysautonomia. We show that heterotetramers composed of 2α- and 2β-tryptase protomers (α/β-tryptase) form naturally in individuals who express α-tryptase. α/β-Tryptase, but not homotetramer, activates protease-activated receptor-2 (PAR2), which is expressed on cell types such as smooth muscle, neurons, and endothelium. Also, only α/β-tryptase makes mast cells susceptible to vibration-triggered degranulation by cleaving the α subunit of the EGF-like module-containing mucin-like hormone receptor-like 2 (EMR2) mechanosensory receptor. Allosteric effects of α-tryptase protomers on neighboring β-tryptase protomers likely result in the novel substrate repertoire of α/β-tryptase tetramers that in turn cause some of the clinical features of hereditary α-tryptasemia and of other disorders involving mast cells.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Allosteric Regulation / genetics
  • Cell Degranulation*
  • Female
  • Genetic Diseases, Inborn* / enzymology
  • Genetic Diseases, Inborn* / genetics
  • Genetic Diseases, Inborn* / pathology
  • Humans
  • Male
  • Mast Cells / enzymology*
  • Mast Cells / pathology
  • Protein Multimerization*
  • Receptor, PAR-2 / genetics
  • Receptor, PAR-2 / metabolism
  • Receptors, G-Protein-Coupled / genetics
  • Receptors, G-Protein-Coupled / metabolism
  • Tryptases* / genetics
  • Tryptases* / metabolism
  • Vibration / adverse effects*

Substances

  • ADGRE2 protein, human
  • F2RL1 protein, human
  • Receptor, PAR-2
  • Receptors, G-Protein-Coupled
  • TPSAB1 protein, human
  • Tryptases