Identify the gene responsible for a syndrome of mental retardation

Researchers at the Medical Center of Duke University and the University of North Carolina in United States have discovered in mice as a single altered gene can cause a severe form of mental retardation known as Angelman syndrome. The results of the work is published online in the journal ‘Nature Neuroscience. Continue reading the arículo
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Scientists discovered that the gene is necessary for UBE2A neurons of the brain can adjust and make connections with other sensory neurons to store information. The team also discovered that when mice were deprived of sensory stimulation, the brain connections are recovered, indicating that could be a behavioral or pharmacological treatment in the future.

The researchers found that brain cells in mice with Angelman syndrome lack the ability to strengthen or weaken in the cortex, an area of the brain important for cognitive abilities.

Angelman syndrome is a neurodevelopmental disorder associated with autism and the few associated with a single gene. Children with the disorder appear to respond normally to stimuli during the first year, but between 12 and 18 months are beginning to fall behind in the normal language and cognitive development. These children learn only two or three words throughout his life.

According to Ben Philpot, co-author of the study, “when we experience the connections between brain cells are modified so that we can learn. When the right connections between brain cells are strengthened or weakened, a process called synaptic plasticity, we can learn and adapt to a changing environment. ”

The inability of brain cells to encode the information from the experiences in the animal model of Angelman syndrome suggests that this is the basis of the profound learning difficulties in these patients.

The authors did not expect to discover that the plasticity of cellular connections could be restored in the visual areas of the brain after short periods of visual deprivation in mice.

“By showing that brain plasticity can be restored in mice with Angelman syndrome our findings suggest that brain cells in these patients are maintained with a latent capacity for plasticity. Now we are working to discover how to harness this latent plasticity and it could provide a treatment or a cure for Angelman syndrome, “adds Philpot.

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