Popular Press Article
MEFV mutations correlated to Fibromyalgia
By: Marie Kumerow Fibromyalgia is a disease characterized by widespread muscle pains, fatigue, tenderness, depression and pressure points [1]. Since it's identification as a clinical disease in 1970, fibromyalgia treatments have mechanistically targeted "how the brain perceives pain" [2]. This theme is evident in the progression of early treatments from psychoanalysis to cognitive behavior therapy, to today's Food and Drug Administration approved treatments which including SNRI anti-depressants and anti-convulsants [2,3]. |
Despite the focus on treating symptoms in the brain, it is clear that fibromyalgia has a genetic component which may also be a target for future drug therapy. In 2009, the MEFV gene was correlated to fibromyalgia patients [4]. The MEFV gene is previously known to be a regulator of inflammatory response and associated with Familial Mediterranean Fever disease, which presents with symptoms similar to those of fibromyalgia [5].
In a recent study, fibromyalgia was shown to be associated with several specific gene variations in cohort with a high carrier (when an individual has only one mutant copy of a gene, resulting in no phenotype) rate of MEFV [6]. A mutation is a disruption in the gene which may cause an abnormal protein product; a polymorphism is one common form of a gene that coexists with other variants within a population; and an allele is a general term for a variant of a gene. This study found several mutations and a common polymorphism (R202Q) of MEFV were correlated to fibromyalgia [6]. They also found a higher carrier rate and different allele frequencies when comparing fibromyalgia patients to a healthy group [6]. This provides strong evidence for an inflammatory mechanism contributing to fibromyalgia, rather than the traditional model affecting "how the brain perceives pain," and could have implications for future treatment options. References [1] Fibromyalgia. PubMed Health. Last reviewed 2 Feb 2012. [2] For Consumers: Living with Fibromyalgia, Drugs Approved to Manage Pain. Food and Drug Administration. 2008. http://www.fda.gov/ForConsumers/ConsumerUpdates/ucm107802.htm [3] Pikoff. (2010) The Psychological Mislabeling of Fibrolmyalgia. http://ubir.buffalo.edu/xmlui/handle/10477/2032 (accessed 13 Mar 2013). [4] Feng J, Zhang Z, Li W, et al. (2009) Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. PLoS One 30: 8480. [5] MEFV. Genetics Home Reference. (last reviewed Sept 2008). [6] Karakus, N, Yigit, S, Inanir, A, Inanir, S, Toprak, H, and Okan S. (2012). Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients. Clinica Chimica Acta 414: 36-40. |