Hereditary Hemorrhagic Telangiectasia: “the Italian job” in a rare disease with genetic heterogeneity

May 20th 2016
Versione stampabile

Venue: Edificio Povo 2, via Sommarive nr. 9, Povo (Tn) - Room B102
 At 2:00 p.m.

  • Carla Olivieri​​ - General Biology and Medical genetics Unit, Department of Molecular Medicine, University of Pavia,Pavia, Italy

Hereditary Hemorrhagic Telangiectasia is an Autosomal Dominant disorder  causing vascular displasias: mucocutaneous Telangiectases  (at specific sites) and Arterovenous Malformation  (AVMs) in internal organs (lung, liver and CNS). The disease is due to mutations in two major genes: ENG and ACVRL1. These genes are mostly expressed in endothelial cells and belong to the TGFβ/BMPs pathway as they code for a Type III and Type I receptor respectively. Moreover, a combined syndrome of Juvenile Polypolsys and HHT can be found in Patients carrying mutations in MADH4, coding for SMAD 4, intranuclear effector of the same signal pathway.  Recently, mutation in BMP9 (the physiological ligand of ALK1) have been related to  “a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia”. Our group has been studying HTT for several years. I will describe our work on mutation analyses and genotype-phenotype correlations and our efforts to eastablish one of the largest collection of DNA samples from HHT Patients in Europe.