Publication Date:
2002-12-03
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Molinari, Florence -- Rio, Marlene -- Meskenaite, Virginia -- Encha-Razavi, Ferechte -- Auge, Joelle -- Bacq, Delphine -- Briault, Sylvain -- Vekemans, Michel -- Munnich, Arnold -- Attie-Bitach, Tania -- Sonderegger, Peter -- Colleaux, Laurence -- New York, N.Y. -- Science. 2002 Nov 29;298(5599):1779-81.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Unite de Recherches sur les Handicaps Genetiques de l'Enfant, INSERM U-393, et Departement de Genetique, Hopital Necker-Enfants Malades, Paris, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12459588" target="_blank"〉PubMed〈/a〉
Keywords:
Adolescent
;
Adult
;
Brain/embryology/*metabolism
;
Female
;
Fetus/metabolism
;
Gene Expression
;
Genes, Recessive
;
Humans
;
Immunohistochemistry
;
Intellectual Disability/*genetics/metabolism
;
Male
;
Microsatellite Repeats
;
Microscopy, Immunoelectron
;
Pedigree
;
*Sequence Deletion
;
Serine Endopeptidases/chemistry/*genetics/metabolism
;
Spinal Cord/embryology/metabolism
;
Synapses/*metabolism/ultrastructure
;
Synaptic Membranes/metabolism
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
