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Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation


Molinari, F; Rio, M; Meskenaite, V; Encha-Razavi, F; Augé, J; Bacq, D; Briault, S; Vekemans, M; Munnich, A; Attié-Bitach, T; Sonderegger, P; Colleaux, L (2002). Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science, 298(5599):1779-1781.

Abstract

A 4-base pair deletion in the neuronal serine protease neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation (MR). In situ hybridization experiments on human fetal brains showed that neurotrypsin was highly expressed in brain structures involved in learning and memory. Immuno-electron microscopy on adult human brain sections revealed that neurotrypsin is located in presynaptic nerve endings, particularly over the presynaptic membrane lining the synaptic cleft. These findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function and suggest potential insights into the pathophysiological bases of mental retardation.

Abstract

A 4-base pair deletion in the neuronal serine protease neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation (MR). In situ hybridization experiments on human fetal brains showed that neurotrypsin was highly expressed in brain structures involved in learning and memory. Immuno-electron microscopy on adult human brain sections revealed that neurotrypsin is located in presynaptic nerve endings, particularly over the presynaptic membrane lining the synaptic cleft. These findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function and suggest potential insights into the pathophysiological bases of mental retardation.

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125 citations in Web of Science®
133 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Department of Biochemistry
07 Faculty of Science > Department of Biochemistry
Dewey Decimal Classification:570 Life sciences; biology
Language:English
Date:29 November 2002
Deposited On:11 Feb 2008 12:20
Last Modified:05 Apr 2016 12:17
Publisher:American Association for the Advancement of Science (AAAS)
ISSN:0036-8075
Funders:Centre National de la Recherche Scientifique, Fondation de France, grant of EUREexpress, Swiss National Science Foundation
Publisher DOI:https://doi.org/10.1126/science.1076521
PubMed ID:12459588

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