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11:45 June 14, 2013 Into (AGI) – Turin, June 14 – A new hereditary genetic disease ‘was discovered by a group of geneticists Citta’ della Salute and Science of Turin. E ‘was, in fact, identified a new gene THOC2 that, when mutated, and’ cause of mental retardation and ataxia. Through the study of a young patient with ataxia (impaired coordination of movements) and mental retardation, and thanks to an international collaboration, the group of geneticists at the Regional Center of Medical Genetics of Turin, coordinated by Alfredo Brusco and Eleonora Di Gregorio, has identified a ‘de novo mutation’ (that originated in the germ cells of the parents), associated with an altered development of the cerebellum. Are so skewed results in the patient two genes: PTK2 and THOC2, whose operation and ‘been shown to be insufficient, at least estimating the quantity& #8217; of the proteins that these genes should produce, which have proved reduced. E ‘was also possible to demonstrate that and’ the gene THOC2 mainly responsible for the disease, since ” and ‘fundamental result in the development and maturation correct neurons. ” The study ‘was published on the International’ Journal of Medical Genetics’. “This work – stress specialists Citta ‘della Salute and Sciences in Turin – adds an element to the understanding of the genetic basis of mental retardation, a category very heterogeneous disease. Study gene THOC2 potra’ open new lines of research for a better understanding of the mechanisms underlying the development and function of the brain and cerebellum. ” (AGI).
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