Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever


Creative Commons License

Kirectepe A. K. , KASAPÇOPUR Ö., Arisoy N., Erdem G. C. , HATEMİ G., Ozdogan H., ...More

BMC MEDICAL GENETICS, vol.12, 2011 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12
  • Publication Date: 2011
  • Doi Number: 10.1186/1471-2350-12-105
  • Title of Journal : BMC MEDICAL GENETICS

Abstract

Background: MEFV mutations and decreased expression level of the gene are related to FMF pathology. DNA methylation at CpG islands is a well-known mechanism for transcriptional silencing. MEFV has a CpG island, spanning a part of the first intron and the whole of the second exon of the gene covering 998 bp region. Here, we tested the hypothesis that the MEFV transcript level in FMF patients correlates with its methylation level, and methylation, by allowing transcription silencing, has a role in FMF ethiopathogenesis.