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

Kirectepe A. K., Kasapcopur O., Arisoy N., Erdem G. C., Hatemi G., Ozdogan H., ...Daha Fazla

BMC MEDICAL GENETICS, cilt.12, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1186/1471-2350-12-105
  • Dergi Adı: BMC MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.