Cambridge – Published in the May issue of the prestigious American Journal of Human Genetics, and edited by Cell Press, the article “Biallelic mutations of the methionyl-tRNA synthetase (Mars) cause a specific type of pulmonary alveolar proteinosis prevalent on Reunion Island” features as authors Tiziana Lodi, Associate Professor in the Department of Biosciences at the University of Parma, and Enrico Baruffini, Fellow within the same Department. The study was coordinated by prof. Tim M. Strom from the Institute of Human Genetics at the Technische Universität München, and Professor. Jacques de Blic from the Hôpital Necker-Enfants Malades del Service de Pneumologie et d’Allergologie Pédiatriques Paris. The study identified for the first time two mutations in the Mars gene, coding for methionyl-tRNA synthetase, present specifically in the population residing in the Island of Réunion (overseas department of France), in the Comoros and Madagascar. These mutations are responsible for a local form of severe pulmonary alveolar proteinosis. (9colonne)
