NDLI: Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.

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Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	López-corcuera, Beatriz De Juan-sanz, Jaime Arribas-gonzález, Esther Aragón, Carmen
Description	Author Affiliation: Arribas-González E ( From the Departamento de Biología Molecular and Centro de Biología Molecular 'Severo Ochoa,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid 28049, Spain, the IdiPAZ-Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid 28046, Spain.); de Juan-Sanz J ( From the Departamento de Biología Molecular and Centro de Biología Molecular 'Severo Ochoa,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid 28049, Spain, the IdiPAZ-Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid 28046, Spain the Centro d); Aragón C ( From the Departamento de Biología Molecular and Centro de Biología Molecular 'Severo Ochoa,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid 28049, Spain, the IdiPAZ-Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid 28046, Spain the Centro d); López-Corcuera B ( From the Departamento de Biología Molecular and Centro de Biología Molecular 'Severo Ochoa,' Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid 28049, Spain, the IdiPAZ-Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid 28046, Spain the Centro d)
Abstract	Hyperekplexia or startle disease is a rare clinical syndrome characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli. This neurological disorder can have serious consequences in neonates, provoking brain damage and/or sudden death due to apnea episodes and cardiorespiratory failure. Hyperekplexia is caused by defective inhibitory glycinergic neurotransmission. Mutations in the human SLC6A5 gene encoding the neuronal GlyT2 glycine transporter are responsible for the presynaptic form of the disease. GlyT2 mediates synaptic glycine recycling, which constitutes the main source of releasable transmitter at glycinergic synapses. Although the majority of GlyT2 mutations detected so far are recessive, a dominant negative mutant that affects GlyT2 trafficking does exist. In this study, we explore the properties and structural alterations of the S512R mutation in GlyT2. We analyze its dominant negative effect that retains wild-type GlyT2 in the endoplasmic reticulum (ER), preventing surface expression. We show that the presence of an arginine rather than serine 512 provoked transporter misfolding, enhanced association to the ER-chaperone calnexin, altered association with the coat-protein complex II component Sec24D, and thereby impeded ER exit. The S512R mutant formed oligomers with wild-type GlyT2 causing its retention in the ER. Overexpression of calnexin rescued wild-type GlyT2 from the dominant negative effect of the mutant, increasing the amount of transporter that reached the plasma membrane and dampening the interaction between the wild-type and mutant GlyT2. The ability of chemical chaperones to overcome the dominant negative effect of the disease mutation on the wild-type transporter was demonstrated in heterologous cells and primary neurons.
ISSN	00219258
e-ISSN	1083351X
Journal	Journal of Biological Chemistry
Issue Number	4
Volume Number	290
Language	English
Publisher	American Society for Biochemistry and Molecular Biology (United States)
Publisher Date	2015-01-23
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Glycine Plasma Membrane Transport Proteins Genetics Mutation Stiff-Person Syndrome Animals Biotinylation COS Cells Calnexin Metabolism Cercopithecus Aethiops Cerebral Cortex Densitometry Endoplasmic Reticulum Genes, Dominant Glycine Chemistry Madin Darby Canine Kidney Cells Molecular Chaperones Neurons Rats, Wistar Synaptic Transmission Research Support, Non-U.S. Gov't Biochemistry Molecular Biology
Content Type	Text
Resource Type	Article
Subject	Cell Biology Biochemistry Molecular Biology

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