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Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality.

Gomeza, Jesús and Ohno, Koji and Hülsmann, Swen and Armsen, Wencke and Eulenburg, Volker and Richter, Diethelm W. and Laube, Bodo and Betz, Heinrich :
Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality.
In: Neuron, 40 (4) pp. 797-806. ISSN 0896-6273
[Article] , (2003)

Abstract

The glycine transporter subtype 2 (GlyT2) is localized in the axon terminals of glycinergic neurons. Mice deficient in GlyT2 are normal at birth but during the second postnatal week develop a lethal neuromotor deficiency that resembles severe forms of human hyperekplexia (hereditary startle disease) and is characterized by spasticity, tremor, and an inability to right. Histological and immunological analyses failed to reveal anatomical or biochemical abnormalities, but the amplitudes of glycinergic miniature inhibitory currents (mIPSCs) were strikingly reduced in hypoglossal motoneurons and dissociated spinal neurons from GlyT2-deficient mice. Thus, postnatal GlyT2 function is crucial for efficient transmitter loading of synaptic vesicles in glycinergic nerve terminals, and the GlyT2 gene constitutes a candidate disease gene in human hyperekplexia patients.

Item Type: Article
Erschienen: 2003
Creators: Gomeza, Jesús and Ohno, Koji and Hülsmann, Swen and Armsen, Wencke and Eulenburg, Volker and Richter, Diethelm W. and Laube, Bodo and Betz, Heinrich
Title: Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality.
Language: English
Abstract:

The glycine transporter subtype 2 (GlyT2) is localized in the axon terminals of glycinergic neurons. Mice deficient in GlyT2 are normal at birth but during the second postnatal week develop a lethal neuromotor deficiency that resembles severe forms of human hyperekplexia (hereditary startle disease) and is characterized by spasticity, tremor, and an inability to right. Histological and immunological analyses failed to reveal anatomical or biochemical abnormalities, but the amplitudes of glycinergic miniature inhibitory currents (mIPSCs) were strikingly reduced in hypoglossal motoneurons and dissociated spinal neurons from GlyT2-deficient mice. Thus, postnatal GlyT2 function is crucial for efficient transmitter loading of synaptic vesicles in glycinergic nerve terminals, and the GlyT2 gene constitutes a candidate disease gene in human hyperekplexia patients.

Journal or Publication Title: Neuron
Volume: 40
Number: 4
Divisions: 10 Department of Biology
10 Department of Biology > Neurophysiology and Neurosensory Systems
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Date Deposited: 11 Apr 2011 09:42
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