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By Stephen Luntz

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Disability Due to Poor Protein Regulation

The cause of an intellectual disability that is common in the men of a particular family has been traced to a mutation. However, instead of affecting the coding function of a gene, the mutation affects protein regulation.

The unnamed malfunction causes severe learning disabilities, aggression and epilepsy. With many men in an extended family of 100 being affected, but no women, it is clear the mutation is recessive and lies on the X chromosome.

“We’ve been researching this specific disability for 10 years and it’s taken us the last 3 years to convince ourselves that the protein regulation is the key,” says Prof Jozef Gecz of the University of Adelaide’s School of Paediatrics and Reproductive Health.

Most harmful mutations that have been identified cause proteins to be malformed or not produced at all. However, in this case the protein is...

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