Experimental basis for the putative role of GluR6/kainate glutamate receptor subunit in Huntington's disease natural history

@article{Diguet2004ExperimentalBF,
  title={Experimental basis for the putative role of GluR6/kainate glutamate receptor subunit in Huntington's disease natural history},
  author={Elsa Diguet and Pierre-Olivier Fernagut and Elisabeth Normand and Laurie Centelles and Christophe Mulle and Francois Tison},
  journal={Neurobiology of Disease},
  year={2004},
  volume={15},
  pages={667-675}
}
Genetic analysis of the GRIK2 modifier effect in Huntington's disease
TLDR
Haplotype analysis using microsatellites, known SNPs and new variants discovered in the 3'UTR argues against a common ancestral origin for the 16 TAA repeat alleles in individuals who showed much earlier age at neurological onset than would be expected from the length of their HD CAG mutation.
Huntington’s Disease: Relationship Between Phenotype and Genotype
TLDR
The recent advancement on the genotype-phenotype relationship of HD is reviewed, mainly focus on the characteristics of different expanded CAG repeat number, genetic modifiers, and CCG repeat number in the 3′ end of CAG triplet repeat and their effects on the phenotype.
Oxidative damage in Huntington's disease pathogenesis.
TLDR
Current evidence supporting a role for oxidative damage in the etiology of neuronal damage and degeneration in Huntington's disease is reviewed.
Polymorphism of the glutamate receptor genes and risk of paranoid schizophrenia in Russians and Tatars from the Republic of Bashkortostan
TLDR
The hypothesis that glutamate receptor genes are involved in the etiology and pathogenesis of schizophrenia and response to haloperidol treatment is supported.
Emerging drug therapies in Huntington's disease
TLDR
This review discusses the treatments now used for Huntington's disease before evaluating the newer drugs at present being explored in both the clinic and in the laboratory in mouse models of the disease.
Emergingdrugtherapiesin Huntington'sdisease
TLDR
This review discusses the treatments now used for Huntington's disease before evaluating the newer drugs at present being explored in both the clinic and in the laboratory in mouse models of the disease.
Kainate Receptors in Health and Disease
Kainate receptors in epilepsy and excitotoxicity
Genetic variants of glutamate receptor gene family in Taiwanese Kawasaki disease children with coronary artery aneurysms
TLDR
It is demonstrated that GRIK1 polymorphisms are associated CAA formation in KD, even when adjusted for fever duration and IVIG used time, and may also serve as a genetic marker for the CAA Formation in KD.
Genetic modifiers of Huntington's disease
TLDR
Advances in genetic technology are expected to highlight processes capable of altering the course of HD and therefore to provide new, human‐validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.
...
...

References

SHOWING 1-10 OF 56 REFERENCES
Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene.
  • J. Cha, C. Kosinski, A. Young
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1998
TLDR
Analysis of glutamate receptors in symptomatic 12-week-old R6/2 mice revealed decreases compared with age-matched littermate controls in the type 1 metabotropic GluR, and in situ hybridization indicated that mGluR and D1 dopamine receptor mRNA were altered as early as 4 weeks of age, long prior to the onset of clinical symptoms.
Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.
TLDR
Data implicate GluR6-mediated excitotoxicity in the pathogenesis of HD and highlight the potential importance of this process in other polyglutamine repeat expansion diseases.
Replicating Huntington's disease phenotype in experimental animals
Evidence for the GluR6 gene associated with younger onset age of Huntington’s disease
TLDR
This study confirms that the 155 allele is associated with younger onset age of HD and suggests that it is in linkage disequilibrium with a variant of the GluR6 gene or another gene in this region.
Striatal and Cortical Neurochemical Changes Induced by Chronic Metabolic Compromise in the 3-Nitropropionic Model of Huntington's Disease
TLDR
The time-course of neurochemical changes occurring following metabolic impairments produced by 3-nitropropionic (3NP) acid in a rat model of Huntington's disease is determined and the involvement of A(2A) receptors in the development of striatal pathology under metabolic compromise is suggested.
Behavioral phenotyping of the MPTP mouse model of Parkinson's disease
Characterization of Progressive Motor Deficits in Mice Transgenic for the Human Huntington’s Disease Mutation
TLDR
R6/2 mice show measurable deficits in motor behavior that begin subtly and increase progressively until death and indicate that they may be useful for evaluating therapeutic strategies for HD, particularly those aimed at reducing the severity of motor symptoms or slowing the course of the disease.
Decreased receptor-binding sites for kainic acid in brains of patients with Huntington's disease.
TLDR
Losses of KA receptor binding were mainly localized to those regions of the HD brain that are most severely affected by neuronal degeneration, and the high-affinity receptor site appeared more affected.
...
...