Expanding our Research Network into Italy Dr. Gianluca Falcone updates us on research being done in Italy

Dr. Falcone contacted The MHE Coalition a few months ago, inquiring about research being done in the United States and Canada and expressing a desire to become involved in the research network that we have developed.   Prof. Fazio, Prof. Rosa and Dr. Falcone share an  interest in researching MHE, as well as a desire to best serve the needs of MHE patients, and this has led to a collaboration with Christine Alvarez and others in the Genotype-Phenotype Study.  The following is a brief update of the work being done by the Italian research group and in Italy.  More detailed information is available in the Researcher section of our web site. Scientific Updating: Hereditary Multiple Exostoses (HME) is the most common type of benign tumor with a low but significant risk of malignant transformation. It is an autosomal dominant inherited disorder with a complex pathogenesis and genetic heterogeneity. At least two loci are known to be associated with HME, EXT1 and EXT2 genes. The mutations in these genes cause the abrogation of the protein involved in the Heparan Sulfate synthesis. Actually, we have analysed 60 families with hereditary multiple exostoses, all Italian descents, and characterized 32 families with mutation in EXT genes (70% in EXT1 gene and 30% in EXT2 gene) (>90 affected subjects). Fourteen new mutations in EXT1 and six in EXT2 genes have been identified in Italian population. Most mutations cause premature truncation of corresponding protein (exostosen), the other are missense mutations in specific functional domains of the protein. Technology: • Single-strand conformational polymorfism (SSCP) or DHPLC (Transgenomics Wave) for rapid molecular screening; • direct sequencing  (MegaBace 500, Amersham); • immunohistochemistry on tissues • cell cultures. Studies and Interest on: • EXT mutation screening • genotype-phenotype correlations • immunohistochemical studies on molecular mechanism of exostoses development • molecular mechanism of malignant transformation in HME-related and –non related bone tumors Molecular Genetics Research Groups: - IRCCS “Casa Sollievo della Sofferenza” Opera di Padre Pio da Pietrelcina Laboratorio di Ricerca Unità di Terapia Genica e Oncologia San Giovanni Rotondo, Italy - University Campus Bio-Medico Laboratory for Molecular Medicine and Biotechnology Rome, Italy Principal investigator:  Prof. VM Fazio M.D. D Seripa Ph.D. MG Matera Ph.D. Clinical Groups: -Rome, Italy Principal Investigator: Dr. G. Falcone (falconegian@libero.it) - Università degli Studi di Messina Istituto di Clinica Ortopedica Messina, Italy Principal Investigator: Prof. MA Rosa

HOME