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Sci. STKE, 2 July 2002
Vol. 2002, Issue 139, p. tw237
[DOI: 10.1126/scisignal.1392002tw237]

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Neuroscience Genetic Clue to Mental Retardation

One of the receptors for angiotensin II, AGTR1, plays a key role in the regulation of blood pressure and water electrolyte balance. A second receptor, AGTR2, is expressed in a number of tissues including the brain, but its function is poorly understood. Vervoort et al. identify AGTR2 as the causative gene in a family with X-linked mental retardation and find sequence changes in the gene in several unrelated patients with the disorder. These results suggest that AGTR2 plays a role in brain development, cognitive function, or both. Further study of signaling pathway of AGTR2 may provide insight into the pathogenesis of mental retardation, which affects 2 to 3% of the population.

V. S. Vervoort, M. A. Beachem, P. S. Edwards, S. Ladd, K. E. Miller, X. de Mollerat, K. Clarkson, B. DuPont, C. E. Schwartz, R. E. Stevenson, E. Boyd, A. K. Srivastava, AGTR2 mutations in X-linked mental retardation. Science 296, 2401-2403 (2002). [Abstract] [Full Text]

Citation: Genetic Clue to Mental Retardation. Sci. STKE 2002, tw237 (2002).

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