A critical role for glycine transporters in hyperexcitability disorders

Robert J Harvey; E Carta; B R Pearce; S K Chung; S Supplisson; M I Rees; K Harvey

doi:10.3389/neuro.02.001.2008

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A critical role for glycine transporters in hyperexcitability disorders

Journal article

Open access

Peer reviewed

A critical role for glycine transporters in hyperexcitability disorders

Robert J Harvey, E Carta, B R Pearce, S K Chung, S Supplisson, M I Rees and K Harvey

Frontiers in Molecular Neuroscience, Vol.1, 1

2008

DOI: https://doi.org/10.3389/neuro.02.001.2008

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Abstract

glycine transporters

GlyT1

GlyT2

VIAAT

hyperekplexia

startle disease

glycine encephalopathy

Defects in mammalian glycinergic neurotransmission result in a complex motor disorder characterized by neonatal hypertonia and an exaggerated startle reflex, known as hyperekplexia (OMIM 149400). This affects newborn children and is characterized by noise or touch-induced seizures that result in muscle stiffness and breath-holding episodes. Although rare, this disorder can have serious consequences, including brain damage and/or sudden infant death. The primary cause of hyperekplexia is missense and non-sense mutations in the glycine receptor (GlyR) α1 subunit gesubunit gene (GLRA1) on chromosome 5q33.1, although we have also discovered rare mutations in the genes encoding the GlyR β subunit (GLRB) and the GlyR clustering proteins gephyrin (GPNH) and collybistin (ARHGEF9). Recent studies of the Na+/Cl-dependent glycine transporters GlyT1 and GlyT2 using mouse knockout models and human genetics have revealed that mutations in GlyT2 are a second major cause of hyperekplexia, while the phenotype of the GlyT1 knockout mouse resembles a devastating neurological disorder known as glycine encephalopathy (OMIM 605899). These findings highlight the importance of these transporters in regulating the levels of synaptic glycine. © 2008 Harvey, Carta, Pearce, Chung, Supplisson, Rees and Harvey.

Details

Title: A critical role for glycine transporters in hyperexcitability disorders
Authors: Robert J Harvey (Author) - University College London, United Kingdom
E Carta (Author) - University College London, United Kingdom
B R Pearce (Author) - University College London, United Kingdom
S K Chung (Author) - Swansea University, United Kingdom
S Supplisson (Author) - Ecole Normale Supérieure, France
M I Rees (Author) - Swansea University, United Kingdom
K Harvey (Author) - University College London, United Kingdom
Publication details: Frontiers in Molecular Neuroscience, Vol.1, 1; 6
Publisher: Frontiers Research Foundation
Date published: 2008
DOI: 10.3389/neuro.02.001.2008
ISSN: 1662-5099
Copyright note: Copyright © 2008 Harvey, Carta, Pearce, Chung, Supplisson, Rees and Harvey. This is an open-access article subject to an exclusive license agreement between the authors and the Frontiers Research Foundation, which permits unrestricted use, distribution, and reproduction in any medium, provided the original authors and source are credited.
Organisation Unit: School of Health; University of the Sunshine Coast, Queensland; School of Health and Sport Sciences - Legacy; Centre for Bioinnovation; School of Health and Behavioural Sciences - Legacy
Language: English
Record Identifier: 99450687302621
Output Type: Journal article

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Web Of Science research areas: Neurosciences

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