Neurotrypsin and Mental Retardation

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Science  29 Nov 2002:
Vol. 298, Issue 5599, pp. 1675
DOI: 10.1126/science.298.5599.1675j

Inherited mental retardation (MR) is often linked to abnormalities on the X chromosome or to abnormalities in brain development or other clinically identifiable features, but in most cases none of these attributes are present. An analysis of such nonsyndromic MR patients by Molinari et al. (p. 1779) revealed an association with the mutation of the serine protease neurotrypsin. In situ hybridization studies of the expression of neurotrypsin during normal development revealed that it is expressed in parts of the brain associated with learning and memory and first appears at 44 days of development. Immunoelectron microscopy localized neurotrypsin at presynaptic nerve endings. Although this mutation does not appear to be a common cause of MR, further studies may yield insights into the pathways leading to these diseases.

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