title: Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: is it a susceptibility gene?
abstract: OBJECTIVE
  Multiple Sclerosis (MS) is a disease of the central nervous system characterized by multiple areas of inflammation and demyelination in the white matter of the brain and spinal cord. MEFV gene, which is the main factor in familial Mediterranean fever, is an intracellular regulator of inflammation. This study was designed to determine if known mutations in pyrin domain of MEFV gene are involved in MS and associated with MS morbidity.
  
  
  METHODS
  Fifty-three patients with MS and 66 healthy subjects, who were all Turkish, were included in this study. Five pyrin gene mutations (E148Q, M680I, M694V, M694I and V726A) were detected in the patients and controls by using the PRONTO FMF Basic Kit according to the manufacturer's instructions.
  
  
  RESULTS
  Pyrin gene mutations were found in 20 of the 53 MS patients (38%) and in seven of the 66 healthy subjects (11%). The frequency of total pyrin domain mutations was significantly higher in the MS patients than in the healthy subjects (p<0.0001). The frequencies of M694V, E148Q and V726A mutations were significantly higher in the patients than in the healthy subjects (p=0.02, p=0.013, p=0.004 respectively). The mean time to reach EDSS score 3.0 was earlier in the patients with MEFV gene mutation (p=0.02) and the relapse rate was slightly higher among the MS patients carrying MEFV gene mutation (p=0.04).
  
  
  CONCLUSIONS
  The results of this study supported the hypothesis that MS patients with MEFV mutation seem to have the susceptibility to develop a more progressive disease. Moreover, these data suggest that MEFV mutations may increase the risk of MS development.
authors.affiliation: Zonguldak Karaelmas University, Faculty of Medicine, Department of Neurology 67700, Kozlu, Zonguldak, Turkey. aysuneu@yahoo.com
authors.forename: Aysun
authors.initials: A
authors.lastname: Unal
authors.forename: Ahmet
authors.initials: A
authors.lastname: Dursun
authors.forename: Ufuk
authors.initials: U
authors.lastname: Emre
authors.forename: Nida F
authors.initials: NF
authors.lastname: Tascilar
authors.forename: Handan
authors.initials: H
authors.lastname: Ankarali
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020528:Multiple Sclerosis, Chronic Progressive / Q000235:genetics* / Q000473:pathology; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D020125:Mutation, Missense; D000071198:Pyrin; D012008:Recurrence; D012720:Severity of Illness Index; D014421:Turkey; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin