Italian researchers have discovered a new gene that causes Alzheimer's Disease, according to a new study out Sunday.
    The result is the fruit of the collaboration of several Italian research groups, engaged for years in the study of the genetic causes of the disease, coordinated by the Molinette hospital of the Città della Salute of Turin.
    The discovery, published in the international scientific journal Alzheimer's Research & Therapy, "suggests the role of rare genetic mutations also as a cause of the disease in old age", explains Innocenzo Rainero who directs the Alzheimer's and related dementia Center of the Molinette hospital and the University of Turin.
    The scientific group, coordinated by Dr.

Elisa Rubino, researcher at the Alzheimer's Disease Center of Molinette, studied for several years an Italian family with senile-onset Alzheimer's disease, discovering that it was caused by mutations in the Grin2C gene, a gene that codes for a subunit of the Nmda glutamate receptor.
    This was achieved through the use of advanced molecular genetic techniques.
    Furthermore, it was possible to demonstrate the effects that this mutation causes in cellular models by increasing neuronal excitability and altering the binding of this protein with other neuronal proteins.
    "Until now, rare mutations in the Psen1, Psen2 and App genes were known to cause Alzheimer's disease, mainly in presenile age", comments Rainero, who had already contributed to the identification of Psen1 in 1995.
    "We expect Grin2C to be a very rare cause of Alzheimer's disease," explains Rubino, emphasizing that "however, the most significant aspect of the research is the confirmation of the role that glutamate-related excitotoxicity mechanisms may have in the development of the disease.
    When glutamate interacts with the Nmda receptor on neurons, a channel opens that promotes the entry of calcium ions.
    If this stimulation is excessive, it causes intense excitation of the neuron that leads to cell death." From a clinical point of view, it is particularly interesting to note how, before the development of cognitive deficit, patients carrying the mutation have developed a depressive mood disorder for years, say the researchers.
    The new study, they note, "will require the development of new drugs capable of reducing glutamate-induced cerebral excitotoxicity to slow the progression of this dramatic disease." The research was carried out in collaboration with Elisa Giorgio of the Department of Molecular Medicine at the University of Pavia, with Alfredo Brusco of the Department of Neuroscience at the University of Turin and with Fabrizio Gardoni of the Department of Pharmacology and Biomolecular Sciences at the University of Milan.
    Alzheimer's is the main cause of serious cognitive deficits and has become one of the major health problems worldwide.
    Scientific research has shown that the disease is the result of a complex interaction between genetic factors and numerous environmental factors, such as hypertension, obesity, diabetes, depression and social isolation that favor the deposition in the brain of two toxic proteins, beta amyloid and tau protein, responsible for neurodegeneration.

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