1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls

• Main Authors: Jalkh Nadine, Chouery Eliane, Nehme Nancy, Medlej-Hashim Myrna, Megarbane André
• Format: Article
• Language: English
• Published: BMC 2010-06-01
• Series: BMC Medical Genetics
• Online Access: http://www.biomedcentral.com/1471-2350/11/87

<p>Abstract</p> <p>Background</p> <p>Familial Mediterranean fever is a recessive autoinflammatory disease frequently encountered in Armenians, Jews, Arabs and Turks. The <it>MEFV </it>gene is responsible for the disease. It encodes a protein called pyrin/marenostrin involved in the innate immune system. A large number of clinically diagnosed FMF patients carry only one <it>MEFV </it>mutation. This study aims at studying the <it>MEFV </it>gene splicing pattern in heterozygous FMF patients and healthy individuals, in an attempt to understand the mechanism underlying the disease in these patients.</p> <p>Methods</p> <p>RNA was extracted from peripheral blood leucocytes of 41 FMF patients and 34 healthy individuals. RT-PCR was then performed, and the amplified products were migrated on a polyacrylamide electrophoresis gel, characterized by gel extraction of the corresponding bands followed by sequencing.</p> <p>Results</p> <p>Five novel splicing events were observed in both patients and controls deleting either exons 3, 4 (del34), or exons 2, 3, 4 (del234), or exons 2, 3, 4, 5 (del2345) or exon7 (del7) or exons 7 and 8 (del78).</p> <p>Conclusions</p> <p>The observation of such qualitative variability in the expression of the <it>MEFV </it>gene suggests a complex transcriptional regulation. However, the expression of these novel transcripts in both patients and controls is not in favour of a severe pathogenic effect.</p>