Mutation results in misshapen folds tied to intellectual disabilities
Some of the human brain’s wrinkles are forged by the behavior of a single gene, scientists report in the Feb. 14 Science.
By scanning more than 1,000 people’s brains, researchers identified five with malformed wrinkles in a specific region. The abnormalities — numerous shallow dips surrounding an unusually wide brain furrow called the Sylvian fissure — were linked with intellectual and language disabilities and seizures in these people.
All five people had mutations that dampened the behavior of a gene named GPR56. Curbing this gene’s behavior results in diminished production of cells that eventually become neurons in the affected brain region, mouse experiments revealed. Boosting the gene’s behavior had the opposite effect.
The results might clarify how wrinkles allow human brains to cram lots of neurons into a small space, Christopher Walsh of Boston Children’s Hospital and colleagues suggest.
B.-I. Bae et al. Evolutionary dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. Vol. 343, February 14, 2014, p. 764. doi: 10.1126/science.1244392
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