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Title: Gene expression analysis in absence epilepsy using a monozygotic twin design.
Austin Authors: Helbig, Ingo;Matigian, Nicholas A;Vadlamudi, Lata;Lawrence, Kate M;Bayly, Marta A;Bain, Sharon M;Diyagama, Dileepa;Scheffer, Ingrid E ;Mulley, John C;Holloway, Andrew J;Dibbens, Leanne M;Berkovic, Samuel F ;Hayward, Nicholas K
Affiliation: Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Australia
Issue Date: 24-Apr-2008
Publication information: Epilepsia 2008; 49(9): 1546-54
Abstract: To identify genes involved in idiopathic absence epilepsies by analyzing gene expression using a monozygotic (MZ) twin design.Genome-wide gene expression in lymphoblastoid cell lines (LCLs) was determined using microarrays derived from five discordant and four concordant MZ twin pairs with idiopathic absence epilepsies and five unaffected MZ twin pairs. Gene expression was analyzed using three strategies: discordant MZ twins were compared as matched pairs, MZ twins concordant for epilepsy were compared to control MZ twins, and a singleton design of affected versus unaffected MZ twin individuals was used irrespective of twin pairing. An overlapping gene list was generated from these analyses. Dysregulation of genes recognized from the microarray experiment was validated using quantitative real time PCR (qRT-PCR) in the twin sample and in an independent sample of 18 sporadic absence cases and 24 healthy controls.Sixty-five probe sets were identified from the three combined microarray analysis strategies. Sixteen genes were chosen for validation and nine of these genes confirmed by qRT-PCR in the twin sample. Differential expression for EGR1 (an immediate early gene) and RCN2 (coding for the calcium-binding protein Reticulocalbin 2) were reconfirmed by qRT-PCR in the independent sample.Using a unique sample of discordant MZ twins, our study identified genes with altered expression, which suggests novel mechanisms in idiopathic absence epilepsy. Dysregulation of EGR1 and RCN2 is implicated in idiopathic absence epilepsy.
Gov't Doc #: 18435749
DOI: 10.1111/j.1528-1167.2008.01630.x
Type: Journal Article
Subjects: Adult
Anticonvulsants.therapeutic use
Calcium-Binding Proteins.genetics
Cell Line, Tumor.pathology
Early Growth Response Protein 1.genetics
Epilepsy, Absence.diagnosis.drug therapy.genetics
Gene Expression.genetics
Oligonucleotide Array Sequence Analysis.methods
Precursor Cell Lymphoblastic Leukemia-Lymphoma.pathology
Reverse Transcriptase Polymerase Chain Reaction
Twins, Monozygotic.genetics
Valproic Acid.therapeutic use
Appears in Collections:Journal articles

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