Progeria, or Hutchinson-Gilford syndrome, is an extremely rare genetic disease that provokes premature aging symptoms, children affected have the physical aspect and health of an elderly person. It is caused by a gene mutation that alters the cell nucleus called lamin, determining lamin related diseases. Some like progeria are systemic and affect the whole body; others affect only parts of the body, as Emery-Dreifuss muscular dystrophy, lipodystrophies and some cardiopathies.
“Symptoms of laminopathies, rare aggressive diseases, may vary considerably – explains doctor Giovanna Lattanzi, coordinator of the Italian Network for Laminopathies and researcher at the National Research Council Institute of Molecular Genetics in Bologna directed by Prof. Nadir Maraldi and located at the Rizzoli Orthopaedic Institute. The Network brings together Italian centers dedicated to molecular and clinical diagnosis and those dedicated to biomedical research jointly with patients, parents and associations interested in pathologies related to nuclear lamina defects, with the aim of diffusing knowledge of these extremely rare diseases amongst pediatricians and general practioners to promote early diagnosis. ”After diagnosis, performed by genetic analysis, the possible therapy varies significantly for each single case, and in this the Network is useful: “To date there is no cure for the cause of laminopathies, and as researchers we are exploring this aspect, but one can work on the symptoms. To be efficient, besides an early diagnosis that allows to start therapy when the effects of the disease are still at their onset, specialists with expertise in laminopathies are needed: thanks to the Network patients can contact neurologists, geneticists, cardiologists, endocrinologists, dermatologists updated in their field on the most recent opportunities to contrast symptoms. “Thanks to therapy, symptoms are reduced and patient quality of life improved. For example in Emery-Dreifuss dystrophy, surgery to lengthen the Achille’s tendon is performed at the Istituto Ortopedico Rizzoli thus allowing patients not to walk on tiptoe, as the disease forces them to do”.
At the 10th Network meeting, programmed on Friday October 18th, at 10.30 am, at the Istituto Ortopedico Rizzoli (Aula Anfiteatro, Centro di Ricerca, via di Barbiano 1/10, Bologna), Doctor Gisèle Bonne from INSERM Paris, who was the first to identify gene mutations of lamin A will be present, as well as specialists in the field from all prominent Italian institutions and patients and parents, who in this context will have the opportunity of confrontation on the daily difficulties faced by patients with these rare diseases.