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Science 29 November 2002:
Vol. 298. no. 5599, pp. 1779 - 1781
DOI: 10.1126/science.1076521
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Reports
Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation
Florence Molinari,1
Marlène Rio,1
Virginia Meskenaite,2
Férechté Encha-Razavi,1
Joelle Augé,1
Delphine Bacq,3
Sylvain Briault,4
Michel Vekemans,1
Arnold Munnich,1
Tania Attié-Bitach,1
Peter Sonderegger,2
Laurence Colleaux1*
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.
1 Unité de Recherches sur les Handicaps
Génétiques de l'Enfant, INSERM U-393, et Département
de Génétique, Hôpital Necker-Enfants Malades, Paris,
France.
2 Institute of Biochemistry, University of
Zurich, Switzerland.
3 Centre National de
Génotypage, Evry, France.
4 Service de
Génétique, CHU de Tours, Hôpital Bretonneau, Tours,
France.
*
To whom correspondence should be addressed. E- mail:
colleaux{at}necker.fr
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