FMRP: New Genetic Clues Found In Fragile X Syndrome

Saturday, January 24, 2015 - 07:50 in Health & Medicine

Scientists have gained new insight into fragile X syndrome, the most common cause of inherited intellectual disability, by studying the case of a person without the disorder, but with two of its classic symptoms. Fragile X syndrome results from an inherited genetic error in a gene called FMR1. The error prevents the manufacture of a protein called FMRP. Loss of FMRP is known to affect how cells in the brain receive signals, dialing up the amount of information allowed in. The gene is on the X chromosome, so the syndrome affects males more often and more severely than females, who may be able to compensate for the genetic error if their second copy of FMR1 is normal. read more

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