Clinical and molecular analysis of Hereditary Angioedema through the study of SERPING1 gene

• Grant number: 12/15339-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: October 01, 2012
• End date: September 30, 2013
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Alexandre da Costa Pereira
• Grantee: Lorenzo Colasurdo de Mingo
• Host Institution: Instituto do Coração Professor Euryclides de Jesus Zerbini (INCOR). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Hereditary Angioedema (HAE) is an autosomal dominant disorder with variable penetrance, which results in inflammatory manifestations of acute subcutaneous or submucosal tissue affecting the skin, the gastrointestinal tract or the upper airways and can be fatal. The disease comes from the deficiency of C1 inhibitor (C1INH) quantitatively and qualitatively, having three different types of manifestation. The type I HAE characterized in a quantitative deficiency, in which the antigen and functional level of C1INH are reduced; HAE type II characterized in a qualitative deficiency, because the antigen levels are normal or even elevated , however, has its activity reduced; the HAE type III has similar clinical simptoms to the previous manifestations of the disease, in wich the levels and activity of the antigen is normal, being  associated with mutations in the Hageman factor and interactions with estrogen, appearing mainly in women. The C1INH gene, called SERPING1, is located on chromosome 11, has eight exons and approximately 200 mutations have been described as disease causing. The genetic diagnosis of HAE, contribute to an earlier diagnosis and better treatment for the patient, since in many cases when the disease is underdiagnosed and not treated properly can lead to death.