Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond

Sprinzl, Bettina; Greiner, Georg; Uyanik, Goekhan; Arock, Michel; Haferlach, Torsten; Sperr, Wolfgang R.; Valent, Peter; Hoermann, Gregor

doi:10.3390/ijms22052458

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Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond

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Ludwig Boltzmann Institute for Hematology and Oncology at the Hanusch Hospital, Center for Medical Genetics, Hanusch Hospital, 1140 Vienna, Austria

Center for Medical Genetics, Hanusch Hospital, 1140 Vienna, Austria

Department of Laboratory Medicine, Medical University of Vienna, 1090 Vienna, Austria

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Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, Austria

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Ihr Labor, Medical Diagnostic Laboratories, 1220 Vienna, Austria

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Medical School, Sigmund Freud Private University, 1020 Vienna, Austria

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Department of Hematology, APHP, Pitié-Salpêtrière-Charles Foix University Hospital and Sorbonne University, 75013 Paris, France

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Centre de Recherche des Cordeliers, INSERM, Sorbonne University, Cell Death and Drug Resistance in Hematological Disorders Team, 75006 Paris, France

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MLL Munich Leukemia Laboratory, 81377 Munich, Germany

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Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, 1090 Vienna, Austria

Author to whom correspondence should be addressed.

Academic Editor: Kwang-Hyun Baek

Int. J. Mol. Sci. 2021, 22(5), 2458; https://doi.org/10.3390/ijms22052458

Received: 20 January 2021 / Revised: 20 February 2021 / Accepted: 25 February 2021 / Published: 28 February 2021

(This article belongs to the Special Issue Mastocytosis, MCAS, and Related Disorders – Diagnosis, Classification and Therapy)

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Abstract

Tryptase is a serine protease that is predominantly produced by tissue mast cells (MCs) and stored in secretory granules together with other pre-formed mediators. MC activation, degranulation and mediator release contribute to various immunological processes, but also to several specific diseases, such as IgE-dependent allergies and clonal MC disorders. Biologically active tryptase tetramers primarily derive from the two genes TPSB2 (encoding β-tryptase) and TPSAB1 (encoding either α- or β-tryptase). Based on the most common gene copy numbers, three genotypes, 0α:4β, 1α:3β and 2α:2β, were defined as “canonical”. About 4–6% of the general population carry germline TPSAB1-α copy number gains (2α:3β, 3α:2β or more α-extra-copies), resulting in elevated basal serum tryptase levels. This condition has recently been termed hereditary alpha tryptasemia (HαT). Although many carriers of HαT appear to be asymptomatic, a number of more or less specific symptoms have been associated with HαT. Recent studies have revealed a significantly higher HαT prevalence in patients with systemic mastocytosis (SM) and an association with concomitant severe Hymenoptera venom-induced anaphylaxis. Moreover, HαT seems to be more common in idiopathic anaphylaxis and MC activation syndromes (MCAS). Therefore, TPSAB1 genotyping should be included in the diagnostic algorithm in patients with symptomatic SM, severe anaphylaxis or MCAS. View Full-Text

Keywords: tryptase; hereditary alpha tryptasemia; mastocytosis

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Sprinzl, B.; Greiner, G.; Uyanik, G.; Arock, M.; Haferlach, T.; Sperr, W.R.; Valent, P.; Hoermann, G. Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond. Int. J. Mol. Sci. 2021, 22, 2458. https://doi.org/10.3390/ijms22052458

AMA Style

Sprinzl B, Greiner G, Uyanik G, Arock M, Haferlach T, Sperr WR, Valent P, Hoermann G. Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond. International Journal of Molecular Sciences. 2021; 22(5):2458. https://doi.org/10.3390/ijms22052458

Chicago/Turabian Style

Sprinzl, Bettina, Georg Greiner, Goekhan Uyanik, Michel Arock, Torsten Haferlach, Wolfgang R. Sperr, Peter Valent, and Gregor Hoermann. 2021. "Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond" International Journal of Molecular Sciences 22, no. 5: 2458. https://doi.org/10.3390/ijms22052458

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