KU Leuven researcher finds new cause of congenital mental disorders

Studies show that five out of 1,000 children are born with a serious mental disability. For some of them, the cause lies in the DNA. Haesen compared the DNA of mentally disabled children with that of their parents and discovered that a mutation in one of two crucial genes – PPP2R1A or PPP2R5D – was the cause.

“The error occurs completely at random and probably originates during the formation of the egg or sperm cell in one of the parents,” said Haesen. Because of these errors, the body produces the wrong proteins, which block the functioning of other proteins. In this concrete case, the DNA error has negative consequences for communication with the brain.

“From the moment that the function of the important signalling protein PP2A is blocked, the nerve cells probably can no longer react correctly to external stimuli,” explained professor Veerle Janssens, promoter of the research. “The communication with the brain then goes wrong, with a mental disability as a result.”

The results open up possibilities for the development of new drugs that could improve communication in the brain. 

Photo: A DNA sequence
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