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

Publication ,  Journal Article
Heinzen, EL; Yoon, W; Weale, ME; Sen, A; Wood, NW; Burke, JR; Welsh-Bohmer, KA; Hulette, CM; Sisodiya, SM; Goldstein, DB
Published in: Genome Biol
2007

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.

Duke Scholars

Published In

Genome Biol

DOI

EISSN

1474-760X

Publication Date

2007

Volume

8

Issue

3

Start / End Page

R32

Location

England

Related Subject Headings

  • Polymerase Chain Reaction
  • Oligonucleotide Array Sequence Analysis
  • Ion Channels
  • Humans
  • Epilepsy, Temporal Lobe
  • Bioinformatics
  • Alzheimer Disease
  • Alternative Splicing
  • 08 Information and Computing Sciences
  • 06 Biological Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Heinzen, E. L., Yoon, W., Weale, M. E., Sen, A., Wood, N. W., Burke, J. R., … Goldstein, D. B. (2007). Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. Genome Biol, 8(3), R32. https://doi.org/10.1186/gb-2007-8-3-r32
Heinzen, Erin L., Woohyun Yoon, Michael E. Weale, Arjune Sen, Nicholas W. Wood, James R. Burke, Kathleen A. Welsh-Bohmer, Christine M. Hulette, Sanjay M. Sisodiya, and David B. Goldstein. “Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease.Genome Biol 8, no. 3 (2007): R32. https://doi.org/10.1186/gb-2007-8-3-r32.
Heinzen EL, Yoon W, Weale ME, Sen A, Wood NW, Burke JR, et al. Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. Genome Biol. 2007;8(3):R32.
Heinzen, Erin L., et al. “Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease.Genome Biol, vol. 8, no. 3, 2007, p. R32. Pubmed, doi:10.1186/gb-2007-8-3-r32.
Heinzen EL, Yoon W, Weale ME, Sen A, Wood NW, Burke JR, Welsh-Bohmer KA, Hulette CM, Sisodiya SM, Goldstein DB. Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. Genome Biol. 2007;8(3):R32.

Published In

Genome Biol

DOI

EISSN

1474-760X

Publication Date

2007

Volume

8

Issue

3

Start / End Page

R32

Location

England

Related Subject Headings

  • Polymerase Chain Reaction
  • Oligonucleotide Array Sequence Analysis
  • Ion Channels
  • Humans
  • Epilepsy, Temporal Lobe
  • Bioinformatics
  • Alzheimer Disease
  • Alternative Splicing
  • 08 Information and Computing Sciences
  • 06 Biological Sciences