Tab Application Banner
  • Users Online: 1090
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
ORIGINAL ARTICLE
Year : 2019  |  Volume : 14  |  Issue : 4  |  Page : 297-303

The effects of epigenetic regulation on phenotypic expressivity in Turkish patients with familial Mediterranean fever


1 Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey
2 Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey
3 Department of Biochemistry, Izmir Bozyaka Training and Research Hospital, Izmir, Turkey
4 Department of Pediatrics, Division of Nephrology, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey
5 Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey

Correspondence Address:
Dr. Ozlem Giray Bozkaya
Department of Pediatrics, Division of Pediatric Genetic Diseases, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340
Turkey
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/injr.injr_24_19

Rights and Permissions

Introduction: In this study, we aimed to characterize the effect of methylation on clinical diversity and gene expression levels in familial Mediterranean fever. Materials and Methods: Forty children, who were diagnosed with FMF according to the Tel-Hashomer criteria, were included in the study. The control group consisted of 32 healthy children. Demographic data, results of molecular studies, physical examination findings, number of attacks, response to treatment were recorded. To test the possibility that methylation is responsible for different phenotypic reflections of mutations, we classified FMF patients with respect to MEFV mutations and studied the differences of MEFV mRNA, pyrin and methylation levels between different subgroups. Results: MEFV mRNA expression levels were significantly lower in FMF patients, compared to control subjects (P = 0.049). Consistent with this observation, pyrin levels were significantly lower in FMF patients (P = 0.037). In addition, we found that MEFV methylation level was higher in FMF patients compared to control subjects (P = 0.376). Conclusions: There was no evidence that differences in methylation levels could be responsible for variable effects of different mutations and variable clinics in the MEFV gene. Further studies on larger patient groups are necessary to identify the effects of different factors.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed730    
    Printed22    
    Emailed0    
    PDF Downloaded67    
    Comments [Add]    

Recommend this journal