title: Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features.
abstract: Systemic mast cell activation disease (MCAD) comprises disorders characterized by an enhanced release of mast cell mediators accompanied by a varying accumulation of dysfunctional mast cells. Within the last years, evidence has been presented that MCAD is a multifactorial polygenic determined disease with the KIT(D816V) mutation and its induced functional consequences considered as special case. The respective genes encode proteins for various signaling pathways, epigenetic regulators, the RNA splicing machinery, and transcription factors. Transgenerational transmission of MCAD appears to be quite common. The basics of the molecular mechanisms underlying predisposition of the disease, that is, somatic and germline mutations and the contribution of epigenetic processes have become identifiable. The aim of the present review is to present and discuss available genetic, epigenetic and epidemiological findings, and to present a model of MCAD pathogenesis.
authors.affiliation: Institute of Human Genetics, University Hospital of Bonn, Sigmund-Freud-Strasse 25, D-53127 Bonn, Germany. Electronic address: molderings@uni-bonn.de.
authors.forename: Gerhard J
authors.initials: GJ
authors.lastname: Molderings
mesh_terms: D044127:Epigenesis, Genetic; D005191:Family Characteristics; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008407:Mast Cells / Q000473:pathology*; D034721:Mastocytosis, Systemic / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D008954:Models, Biological