Título: Desarrollo de técnicas moleculare para el diagnóstico genético de la fibromialgia
IP: Dra. Carmen Díez Sánchez
Resumen del proyecto: Fibromyalgia is manifested through a state of chronic, widespread pain without demonstrable organic changes often associated with other syndromes such as chronic fatigue syndrome (CFS). The most important features are: association with female gender (90%) and its high prevalence (in Spain 1-4% of population). Since the FM is often present in family members, it is assumed that there may be genetic or environmental factors associated with its etiology or the penetrance of the syndromes, so finding causes or triggering factors may help prognosis or diagnosis of these diseases. The associations found between some SNPs of nuclear genes (5-HTR2A (Smith et al., 2008)) with the SFC, have stimulated our research group undertook the study of the contribution of genetic variations of mitochondrial DNA population (haplogroups and subhaplogrupos) to the emergence of diseases such as FM and CFS. The hypothesis: mitochondrial variants as modifying the performance of the respiratory chain and therefore ROS production and oxidative damage may alter the threshold of pain and fatigue in the individual. To complement this, we will analyze nuclear genes involved in protection against oxidative damage: ApoE, PON1, SOD. In addition, some genes related to neural transmission (COMT, cannabinoid receptors?), Altered collagen (COL1 A1), inflammation (IL7r) is scheduled to complete the study.
Entidad financiadora: Diputación General de Aragón