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

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. N

SUBMITTER: Heinzen EL 

PROVIDER: S-EPMC1868939 | biostudies-literature | 2007

REPOSITORIES: biostudies-literature