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November 11, 2015

Different Neurodisorders Appear to Share Common Disease Mechanisms

  • Researchers at the University of Edinburgh and an international team of colleagues report that brain disorders that cause intellectual disabilities and autism spectrum behaviors may share common defects despite having different genetic causes. Two models of intellectual disability in mice were found to have demonstrated that they share similar disease mechanisms.

    The scientists discovered that treatment with Lovastatin can correct high levels of protein production in the brain linked to the conditions. The findings suggest that different types of intellectual disabilities may benefit from common therapeutic approaches.

    The researchers studied mice with a genetic mutation that means they produce lower levels of a protein called SynGAP. The mice show learning and behavioral difficulties and act as a model system to understand why people with mutations in the human version of the gene suffer from intellectual disability.

    The team from the university's Patrick Wild Centre and Centre for Integrative Physiology found that treatment with Lovastatin normalized levels of protein production in the brains of the mice. Their results suggest that Lovastatin acts by reducing levels of the active form of a protein called ERK1/2.

    The investigators compared their findings with mice that lack a protein called FMRP, which also causes cellular and behavioral changes that can be rescued with Lovastatin. Loss of FMRP in people leads to Fragile X Syndrome, the most common inherited form of intellectual disability and autism. They published their study (“Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-ly Mice”) in the Journal of Neuroscience.

    "Statins, such as Lovastatin, are already used widely for treating people, including children, for high cholesterol with minimal side effects,” said Peter Kind, Ph.D., director of the University of Edinburgh’s Patrick Wild Center for Research into Autism, Fragile X Syndrome, and Intellectual Disabilities. “Further studies are needed to determine whether these existing medications could also help people with intellectual disabilities."

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