A cerebral cavernous malformations site
This genetic disease early diagnosis can be a real lifesaver. Networking against bleeding in the brain: is online now CCM Italy, the first Italian website dedicated to cerebral cavernous malformations (CCM), hereditary abnormalities of the blood capillaries of the brain that put the sufferer at risk of recurrent headaches, attacks seizures, neurological deficits and, in severe cases, intracerebral hemorrhage. Project Coordinator Francesco Retta, Department of Clinical Sciences and biological University of Turin, with funding from Telethon is studying the molecular mechanisms underlying the disease, yet little known.
“This genetic disease is much less rare than you think, but unfortunately little known,” says the researcher”. It can happen so that doctors look after the clinical symptoms, such as anti-epileptic drugs, but ignoring the primary cause and the potential risk of experiencing more serious episodes such as cerebral hemorrhages, which can even be fatal”. At the moment there is no specific treatment apart from removal by surgical malformations accessible for patients at risk of cerebral hemorrhage or epilepsy resistant to common medical treatments.
The diagnosis of CCM by MRI is performed, as is already available genetic tests that let you know in advance who is carrying the genetic defect in question, which concerns the current estimated 0.1 to 0.5% of the population and resulting in symptoms in 20-30% of cases.
Among the famous cases of this disease, the cycling champion Alberto Contador, the victim of an epileptic seizure in 2004 during a bicycle race and worked for the removal of a cavernous angioma of the brain, and track and field Olympic champion Florence Griffith, who died at only 39 years on account of a brain hemorrhage.
“If you do not know they have a disease you can not cure, or prevent the most harmful effects” Right continues. “That’s why, in addition to studying the biological mechanisms, we wondered how to promote awareness among the public and thus encourage early detection: in this sense the internet it seemed the ideal ally”. Thanks to the fundamental contribution of the Center infrastructure computer and data services for the Humanities Faculty of the University of Turin, Italy was born as CCM, that “seek to promote awareness of this disease in our country first among patients, but also in science: through discussion forums and a unified database we hope to facilitate interaction and exchange of information between clinicians and basic researchers and thereby create a true network of multidisciplinary research, open to all clinical and research centers Italians interested in this issue”. The full list of participating centers, constantly updated, is available in the “about us” baby’s website.
In the laboratory, meanwhile, Right and his team will continue with the studies of basic research: the past year, just as part of the Telethon Institute, University of Turin researchers have discovered that a particular gene associated with the disease, called KRIT1 , plays an important role in protecting cells from oxidative damage, suggesting a potential pathogenic mechanism and opening new therapeutic perspectives. The study was also honored by the Association of American patients Angioma Alliance, currently the most active and important in the world. In Italy there is still no reference organization for those affected by the CCM: the invitation, of course, is open.