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MEFV Gene (mefv + gene)
Selected AbstractsThe rate of MEFV gene mutations in hematolymphoid neoplasmsINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 5 2010S. Celik Summary The aim of this study was to determine the rate of MEFV gene mutations, the gene responsible for familial Mediterranean fever (FMF), in patients with hematolymphoid neoplasm. The rate of the five most common MEFV gene mutations (M694V, M680I, V726A, M694I and E148Q) was determined in 46 patients with hematolymphoid neoplasm. We found a high frequency of carriers in patients with multiple myeloma (60%) and acute lymphocytic leukaemia (33.3%), whereas patients with chronic lymphocytic leukaemia (9%) and non-Hodgkin lymphoma (5%) had a low mutation carrier rate. There is no MEFV gene mutation in patients with Hodgkin lymphoma. Furthermore, the statistically significant predominance of strong heterozygous mutations such as M694V and M680I in patients with hematolymphoid neoplasm; none had own and/or family history compatible with FMF, is interesting. In conclusion, we found a high frequency of carriers for MEFV gene in patients with multiple myeloma and acute lymphocytic leukaemia. The data of our study may provide some new insights in understanding of individual genetic differences in susceptibility to these neoplasms. [source] The mediterranean fever gene modifies the progression of disability in non-Ashkenazi Jewish multiple sclerosis patientsJOURNAL OF NEUROCHEMISTRY, Issue 2002Y. Shinar MS is an autoimmune, CNS demyelinating disease manifested in most patients with progressive disability. The progression rate varies between patients and may depend on modifier, immune related genes. The Mediterranean fever gene, expressed in peripheral blood leukocytes, is responsible for familial Mediterranean fever (FMF), a recessive, periodic autoinflammatory disease prevalent in Semitic populations, and less penetrant in Ashkenazi Jews. We related common, FMF associated MEFV mutations to the progression of disability in Jewish, relapsing remitting (RR) MS patients. The mutations 148Q, 694V, 695R and 726A were identified by enzymatic restriction of PCR-amplified MEFV DNA. The progression to statuses 3 and 6 of the expanded disability status scale (EDSS) was analyzed on survival plots. 35% of 48 non-Ashkenazi patients had one MEFV mutation. Compared to non-carriers (n = 31) the heterozygous cohort (n = 17) represented with an increased fraction reaching both EDSS statuses (p < 0.05), and with a shorter median time to reach both EDSS =,3 (2 years in carriers vs. 10 years in non-carriers, p < 0.01) and EDSS =,6 (6 vs. 23 years, respectively, p < 0.005). 17% of 71 Ashkenazi patients had one MEFV mutation. There was no significant difference in the fraction of disabled or in the progression of disability between Ashkenazi carrier patients and non-carriers. The susceptibility of the non-Ashkenazi group attributed, in part, to the detrimental non-Ashkenazi 694V mutation. The results suggest phenotypic expression of one mutated MEFV gene in non-ashkenazi patients, pertinent to the pathogenesis of disability. Acknowledgements:, Granted by the Israeli Ministry of Science (#6279). [source] Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14-year-old Turkish girlTHE JOURNAL OF DERMATOLOGY, Issue 5 2007Betul Sozeri YENIAY ABSTRACT Juvenile psoriatic arthritis (JPsA) is characterized by asymmetric arthritis of big and small joints, enthesitis, dactylitis, psoriatic skin lesions and nail pitting. Investigators agree that JPsA is a relatively common chronic arthropathy of childhood that differs clinically, serologically, and genetically from both juvenile idiopathic arthritis and juvenile ankylosing spondylitis. Familial Mediterranean fever (FMF) is a multisystemic autosomal recessive disease occasionally accompanied by sacroiliitis. This is characterized by recurrent self-limited attacks of fever and accompanying abdominal, chest and arthricular pain. We present a 14-year-old Turkish girl with JPsA and carrying FMF gene mutations. In this patient, JPsA was diagnosed according to her physical, laboratory and skin biopsy findings and a treatment with methotrexate and sulfasalazine was started. As an inadequate clinical and laboratory response was obtained after the first month of therapy, the patient was investigated for FMF, and was diagnosed by molecular analyses of related gene (E148Q heterozygous/V726A homozygous mutation) besides clinical findings. After 2 weeks of the colchicine treatment, symptoms of the patient regressed and acute phase reactants decreased. To our knowledge, this is the first case presenting with psoriatic arthritis and FMF gene mutations together and responds to colchicine, methotrexate and sulfasalazine dramatically in clinical and laboratory findings. This case has been presented to remind that cases with psoriatic arthritis may also carry mutations in the MEFV gene. [source] Clinical disease among patients heterozygous for familial mediterranean fever,ARTHRITIS & RHEUMATISM, Issue 6 2009Dina Marek-Yagel Objective To define the molecular basis of familial Mediterranean fever (FMF) in patients with only 1 mutation in the MEFV gene. Methods Genetic analysis was performed in 20 FMF patients, including full sequencing of complementary DNA (cDNA) samples and multiplex ligation-dependent probe amplification analysis. In patients with first-degree relatives with FMF, haplotype analysis was also performed. Results A second mutation was found in 2 patients. In the other 18 patients, we could not identify additional mutations, large genomic deletions, or duplications. Analysis of single-nucleotide polymorphisms along the cDNA ruled out a lack of expression of 1 of the alleles. In 2 of the 3 families in which more than 1 sibling had FMF, we showed that the affected siblings inherited a different MEFV allele from the parent who did not have the MEFV mutation. Conclusion These findings are highly consistent with the existence of a clinical phenotype among some patients who are heterozygous for FMF and could explain the vertical transmission in some families. A single mutation in the MEFV gene may be much more common than was previously thought and may include up to 25% of patients who are diagnosed as having FMF. [source] MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean feverCLINICAL GENETICS, Issue 5 2007S Giaglis Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene. FMF is common in the Mediterranean Basin populations, although with varying genetic patterns. The spectrum and clinical significance of MEFV alterations in Greece has yet not been elucidated. The aim of this study was to analyze the spectrum of MEFV alterations in FMF patients and healthy individuals in Greece. A cohort of 152 Greek FMF patients along with 140 Greek healthy controls was enrolled. Non-isotopic RNase cleavage assay (NIRCA) and sequencing allowed mutational and haplotypic analysis of the entire coding sequence of MEFV. The arlequin 2.0, dnasp 4.0 and phylip software were used for population genetics analysis. Among patients, 127 (83.6%) carried at least one known mutation. The most common mutations identified were M694V (38.1%), M680I (19.7%), V726A (12.2%), E148Q (10.9%) and E230K (6.1%). The total carrier rate among healthy individuals was 0.7%. The presence of R202Q homozygosity in 12 of the remaining 25 MEFV negative FMF patients might be considered as disease related in Greeks. Population genetics analysis revealed that Greeks rely closer to the eastern rather than western populations of the Mediterranean Basin. [source] | |||||||||||||