The prevention of SMA

Spinal Muscular Atrophy (SMA) is a hereditary neuromuscular disease, and then transmitted through the generations. The gene responsible for this disorder has been identified many years ago (SMN1 gene), but at this moment there is no cure for affected individuals and in particular there isn’t an information campaign and awareness for the carriers.
Where there is a SMA patient, there are carriers, often unaware of the disease. Carriers are primarily parents of affected and, with 50% probability, grandparents, uncles, brothers of affected, involving the two families of both parents. Carriers present only one of two copies of the SMN1 gene and are individuals who do not show signs of the disease. A couple where both partners are carriers have a high probability of generating affected offspring, 25%.
Prevention remains the best way to limit the spread of the disease, because there is no effective therapy. Experience and direct contact with family members of individuals with SMA, showed that the awareness of being the bearer of the specific genetic mutation directs towards specific reproductive choices that lead to prevention of the disease. To define precisely the risk of genetic transmission of spinal muscular atrophy puts a couple in terms of choosing consciously to sustain or not the risk of conceiving a child with a severe neuromuscular disease.

Given the high frequency of carriers of mutations in the SMN1 gene (on average about 1 on 50 individuals in the general population but also with regional peaks much higher), it is estimated that the evaluation of the healthy carriers interested hundreds of thousands of individuals. Today, the molecular diagnosis of disease is relatively simple, and is made from approximately 8-10 years in various laboratories of genetics on the national territory. Laborious, with very high cost and not always reliable in the results remains the detection of healthy carriers. Currently, the analysis is performed in the following centers:
- Cagliari, Ospedale Regionale Microcitemie;
- Chieti, Policlinico Universitario di Chieti;
- Milan, Istituto Neurologico “Carlo Besta”;
- Rome, Università Cattolica del Sacro Cuore;
- S. Giovanni Rotondo (Fg), Casa sollievo della Sofferenza;
- Udine, Istituto di Genetica dell’Azienda Ospedaliera Universitaria di Udine.

A reliable, rapid and economical diagnostic test to identify carriers of spinal muscular atrophy, is the goal of the project carried out by the Institute of Genetics of the Department of Biomedical Science, University of Udine and supported by Unione Italiana Lotta alla Distrofia Muscolare (UILDM) of the same city. The test was developed through a technique called Mlpa (multiplex ligation dependent polymerase amplification), a biotechnological innovation in the fields of diagnostics and applied research to the clinic. It makes possible to identify carriers of SMA assembling properties of different methods used in molecular biology.
To have a new diagnostic test, such as the one obtained by researchers of the University of Udine coordinated by Dr. Renata Lonigro, could allow us to activate a campaign to prevent the SMA on a large scale. The Institute of Genetics of the Hospital-University of Udine, directed by Professor Giuseppe Damante, is one of the few Italian centers where it is possible to test healthy carrier with the new technique. For information and appointments contact Dr. Lonigro phoning from 8.30 hours to 14.00 hours at the Institute of Genetics, University of Udine at 0432494370 - 71.

(source: UILDM Udine)