Study reveals link between disrupted enzyme and intellectual disability

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Study reveals link between disrupted enzyme and intellectual disability

A new study, published in Frontiers in Molecular Neuroscience, reveals how a rare genetic mutation leads to intellectual disability. The P212L mutation in an enzyme called CaMKIIalpha, which is important for learning and memory, is known to be linked to intellectual disability. However, the exact process by which the mutation affected the enzyme’s activity was unclear, until now. A newly developed method of protein analysis has shown that the P212L mutation causes dramatically more activation of CaMKIIalpha. This has enabled researchers to identify a potential treatment using existing medicine, and this new method could be adapted to analyze other genetic causes of disability and disease in the future.

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