The genetic origin of autism confirmed
NEW advanced research on the genetic origins of autism, a complex syndrome that disrupts communication and social interactions of these young children with additional repetitive and stereotyped behaviour. A team from the Pasteur Institute under the direction of Thomas Bourgeron (in collaboration with INSERM, the psychiatric wards of Professor Marion Leboyer the CHU Creteil, Professor Marie-Christine Mouren Simeoni the Robert Debre Hospital in Paris and Pr Christopher Gillberg Gothenburg in Sweden) has identified a new gene on chromosome 22 implicated in this disease of the brain maturation. It has also decrypt its key role in communication between neurons.
Researchers and bring new pieces to the complex puzzle of autism. This work is published in the first on the site of Nature Genetics. The autism or autism rather syndromes, whose origins remain mysterious well, have long been the subject of a guerrilla between the proponents of the current psychoanalytic which, under the leadership of Bruno Bettelheim, put on the account of a poor mother-child relationship behind these difficulties and scientists trying to discover the anomalies of the maturing brain involved in these pervasive developmental disorders. Parents and children have long borne the brunt of these two approaches if contradictory. Today, after decades of discord, relations between these two streams were partially eased.
Mutations in two genes
The team of Thomas Bourgeron, head of group human genetics and cognitive functions at the Institut Pasteur in 2003 had already managed to identify in people with autism pure, without mental retardation, (High-Functioning Autism) mutations in two genes coding for neuroligine located on the short arm of chromosome X. The neuroligines are proteins involved in the formation of synapses, the areas of communication between neurons. This time, they observed in children with autism carry a mental retardation associated with language disorders, alterations on chromosome 22, which SHANK3 gene encodes a protein known to have very close relations with neurologines. In fact, they act as scaffolding above which set themselves neuroligines. “It’s like a blueprint that will enable other proteins well positioned at the synapse,” says Thomas Bourgeron, who wishes to emphasize that the merit of this discovery is tantamount to Christelle Durand a young researcher who, bac + 8, wins royally 1 100 euros per month and which could not continue to be paid through a grant from the Fondation France Telecom … “All these studies have suggested that a defect in the formation of synapses increase susceptibility to autism” says he. In a family of patients, researchers have identified a mutation that did not exist among parents; she appeared very early during the formation of gametes. Although only one of two chromosomes 22 is concerned by this anomaly, it was enough to prevent the child to develop language. Researchers will continue to explore this avenue of research proteins of the synapse, like a breadcrumb, to see if there were no other genetic anomalies of this type. But this genetic approach is not the only, while others are looking to families of genes involved in the maturation of neurons in the migration of these neurons, or in the management of neuronal interactions. Not to mention the numerous searches in other areas: neurocognitivisme, brain imaging, educational, etc.. For it is a group of diseases frighteningly complex. There are 100 000 autism in France, including 40 000 children and adolescents for whom the structures of care are notoriously inadequate. To the great despair of parents who live too often an ordeal. With many specialists, they also advocate for early detection of this disorder, at best before the age of 24 months to be able to start as soon as possible stimulation programmes cognitive, emotional social, which will allow their young children out their internal prison.
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