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Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

Heinzen, EL; Yoon, W; Weale, ME; Sen, A; Wood, NW; Burke, JR; Welsh-Bohmer, KA; ... Goldstein, DB; + view all (2007) Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. GENOME BIOL , 8 (3) , Article R32. 10.1186/gb-2007-8-3-r32.

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Abstract

Background: Alternative gene transcript splicing permits a single gene to produce multiple proteins with varied functions. Bioinformatic investigations have identified numerous splice variants, but whether these transcripts are translated to functional proteins and the physiological significance of these alternative proteins are largely unknown. Through direct identification of splice variants associated with disease states, we can begin to address these questions and to elucidate their roles in disease predisposition and pathophysiology. This work specifically sought to identify disease-associated alternative splicing patterns in ion channel genes by comprehensively screening affected brain tissue collected from patients with mesial temporal lobe epilepsy and Alzheimer's disease. New technology permitting the screening of alternative splice variants in microarray format was employed. Real time quantitative PCR was used to verify observed splice variant patterns.Results: This work shows for the first time that two common neurological conditions are associated with extensive changes in gene splicing, with 25% and 12% of the genes considered having significant changes in splicing patterns associated with mesial temporal lobe epilepsy and Alzheimer's disease, respectively. Furthermore, these changes were found to exhibit unique and consistent patterns within the disease groups.Conclusion: This work has identified a set of disease-associated, alternatively spliced gene products that represent high priorities for detailed functional investigations into how these changes impact the pathophysiology of mesial temporal lobe epilepsy and Alzheimer's disease.

Type: Article
Title: Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
DOI: 10.1186/gb-2007-8-3-r32
Keywords: FAMILIAL NEONATAL CONVULSIONS, GLUTAMATE-RECEPTOR SUBUNITS, CHILDHOOD ABSENCE EPILEPSY, SPATIAL WORKING-MEMORY, A-DEFICIENT MICE, AMPA RECEPTORS, SITE MUTATION, CA2+ CHANNEL, KCNQ2, GENE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: http://discovery.ucl.ac.uk/id/eprint/175238
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