Possible gene for form of mental retardation, brain development identified

est this hypothesis, they identified genes near the break point in the broken chromosome (candidate genes) and analyzed them to see if any of them were damaged or altered. Dr. Srivastava's team showed that the patient's AGTR2 gene was affected by the break point and found that its expression was absent in this female patient.

The researchers then studied the AGTR2 gene in 590 other male patients with unexplained MR, and found mutations in this gene in eight of them. "Although an AGTR2 mutation only appears to be present in 1.5 percent of males with unexplained mental retardation, this percentage is significant," said James Hanson, M.D., Chief of NICHD's Mental Retardation & Developmental Disabilities Branch. "With a total of 30,000-35,000 genes in the human body, the discovery of even a single gene that may play a pivotal role in brain development could be an extremely important discovery. This study also shows that the technique of identifying candidate genes in a single individual with MR and testing them for mutations is useful for identifying genes related to mental retardation."

The AGTR2 gene, found on the X chromosome, is structurally similar to the AGTR1 (Angiotensin II receptor 1) gene, which plays an important role in blood vessel functioning, regulating blood pressure, water and electrolyte balance, and hormone secretion. The researchers suspect that AGTR2 is also involved in blood vessel function or development. Blood vessel development and function is likely to be important for the formation of structures and relationships or for maintenance of important functions in the brain. Next, researchers will study individuals with both MR and the AGTR2 mutation to determine if there is a common area on the gene that is altered in some or all of them. They will then try to determine if the AGTR2 mutation is, in fact, related to a defect in blood vessel development or function in the brain.


Contact: Susan Marsiglia and Robert Bock
NIH/National Institute of Child Health and Human Development

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