Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients

A K Kirectepe; G Celikyapi Erdem; N Senturk; N Arisoy; G Hatemi; H Ozdogan; O Kasapcopur; E Tahir Turanli

doi:10.1111/j.1744-313X.2011.01015.x

Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients

Int J Immunogenet. 2011 Aug;38(4):327-9. doi: 10.1111/j.1744-313X.2011.01015.x. Epub 2011 May 25.

Authors

A K Kirectepe¹, G Celikyapi Erdem, N Senturk, N Arisoy, G Hatemi, H Ozdogan, O Kasapcopur, E Tahir Turanli

Affiliation

¹ Molecular Biology Genetics and Biotechnology Graduate Program, Institute of Science and Technology, Istanbul Technical University, Istanbul, Turkey.

PMID: 21615705
DOI: 10.1111/j.1744-313X.2011.01015.x

Abstract

A defect in MEFV gene expression regulation has been implicated in familial Mediterranean fever (FMF) etiopathophysiology. Here we show significantly higher expression level in second exon lacking MEFV transcript in FMF patients compared with healthy controls (P=0.026). Our results also point out a possible role of exon 2 deleted MEFV transcript in FMF pathogenesis.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alternative Splicing / genetics
Case-Control Studies
Cytoskeletal Proteins / genetics*
Exons / genetics*
Familial Mediterranean Fever / genetics*
Gene Expression Regulation*
Humans
Pyrin
RNA Splice Sites / genetics
RNA, Messenger / genetics
Sequence Deletion / genetics*
Transcription, Genetic

Substances

Cytoskeletal Proteins
MEFV protein, human
Pyrin
RNA Splice Sites
RNA, Messenger