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Posted by on Jun 14, 2013 in Medical Journals |

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

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Immunology. 2012 Nov;137(3):197-205. doi: 10.1111/j.1365-2567.2012.03627.x.

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Haenisch B, Nöthen MM, Molderings GJ.

Abstract

Despite increasing understanding of its pathophysiology, the aetiology of systemic mast cell activation disease (MCAD) remains largely unknown. Research has shown that somatic mutations in kinases are necessary for the establishment of a clonal mast cell population, in particular mutations in the tyrosine kinase Kit and in enzymes and receptors with crucial involvement in the regulation of mast cell activity. However, other, as yet undetermined, abnormalities are necessary for the manifestation of clinical disease. The present article reviews molecular genetic research into the identification of disease-associated genes and their mutational alterations. The authors also present novel data on familial systemic MCAD and review the associated literature. Finally, the importance of understanding the molecular basis of inherited mutations in terms of diagnostics and therapy is emphasized.

© 2012 The Authors. Immunology © 2012 Blackwell Publishing Ltd.

PMID: 22957768 [PubMed – indexed for MEDLINE] PMCID: PMC3482677 [Available on 2013/11/1]