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Researchers have identified a new inherited neurodevelopmental disease that causes slow growth, seizures and learning difficulties in humans. The team reveals that this disease is caused by a recessive mutation in CAMK2A-a gene that is well known for its role in regulating learning and memory in animals.
Dysfunctional CAMK2 genes may contribute to other neurological disorders, such as epilepsy and autism, many children are born with growth delays, neurological defects and intellectual disabilities every year across the world,” explains senior author Bruno Reversade, Research Director at the Institute of Medical Biology and Institute of Molecular and Cell Biology, A*STAR, Singapore, who supervised the study.
Genetic mutations have been identified for some patients, the cause remains unknown in many cases, identifying novel mutations would not only advance the understanding of neurological diseases but also help clinicians diagnose children with similar symptoms and diagnose genetic testing for expecting parents.
The team’s research began when they identified a pair of siblings who demonstrated neurodevelopmental delay with frequent, unexplained seizures and convulsions. While the structure of their bodies developed normally, they did not gain the ability to walk or speak. The children had novel mutations in CAMK2A.
The fully functional CAMK2A protein consists of multiple subunits. Using a genomic technique called exome sequencing, the team discovered a single coding error affecting a key residue in the CAMK2A gene that prevents its subunits from assembling correctly. Moving their studies into the roundworm Caenorhabditis elegans, the scientists saw that this mutation disrupts the ability of CAMK2A to ensure proper neuronal communication and normal motor function.
This suggests that the mutation is indeed the cause of the neurodevelopmental defects seen in the siblings, this new disorder represents the first human disease caused by inherited mutations on both copies of the CAMK2A gene.
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