TELETHON FACILITY FOR ELECTRON MICROSCOPY: ULTRASTRUCTURAL ANALYSIS AND IMMUNO-LOCALIZATION ON IN VITRO CELL MODEL SYSTEMS OF GENETIC DISEASES

Genetic diseases derive from the mutation of one or more genes. Genes code for proteins, which in turn perform specific function within the cell (gene-protein-function). There are functions performed by all cells (e.g. the ability to divide), or specialized functions restricted to a specific set of cells (e.g. synthesis of melanin by pigmented cells, the melanocytes). A mutated gene gives rise to an abnormal or a missing protein. As a result cells cannot perform a given function, determining a disease.Electron microscopy can visualize the morphology of the cell compartments at a detail of 10-15 angstroms, and show the localization of the protein (by using a particular technique named immuno- electron microscopy). A comparative analysis between a ‘normal cell and a cell expressing a mutated form of the protein of interest can provide crucial information on its potential role. More and more laboratories involved in the study of genetic diseases focus their research on recently identified proteins of unknown function and localization. Setting up electron microscopy techniques to obtain these data is very expensive and requires technically and scientifically competent personnel. A well-equipped and qualified facility taking care of these activities will allow a reduction of the costs and to more efficiently and rapidly obtaining the results.