Moreover, symptoms of the newly discovered form have been reversed in mouse models by altering diet. This gives rise to the possibility that similar treatment might help people, the researchers said. The study was published online Thursday in the journal Science.
Researchers led by Gaia Novarino and Joseph G. Gleeson of UCSD studied two families, one of Egyptian descent and another of Turkish origin. They examined the genome of patients and healthy relatives for exons, gene sequences that code for proteins. The researchers found that patients shared an exon mutation on a gene called BCKDK. The mutant gene is recessive, meaning that it must be inherited from both mother and father to manifest."
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