Scientists Identify Genes Associated with Chronic Musculoskeletal Pain

Scientists at the NSU Natural Sciences Department Theoretical and Applied Functional Genomics Laboratory and Institute of Cytology and Genetics Laboratory of Recombination and Segregation Analysis, together with foreign colleagues, proposed a non-standard approach to the study of the genetic foundations of chronic pain. They suggested combining several types of chronic pain, in this case pain in the back, knee, thigh, and neck / shoulders, and highlight the "genetically independent phenotypes." The results were published in the open access “Communications Biology” journal.

Yakov Tsepilov, Ph.D. and leading researcher at the NSU Natural Sciences Department Cytology and Genetics Division, talked about this work,

We have developed a new approach that allows you to extract a common genetic component fr om several symptoms. This strategy not only helps to increase the analysis power, but also overcomes such challenges as the heterogeneity of the characteristic being analyzed. The method is applicable to a wide class of symptoms and diseases that have something in common genetically.

As a result of this work, scientists identified five genetic loci that affect the risk of developing chronic pain syndromes and identified the genes most likely associated with the pathologies in the study. In particular, such genes as GDF5 and ECM1wh ere the proteins encoded in them are involved in the development of bones, cartilage, and joints. The discovery of these genes is explained by the fact that a variety of chronic musculoskeletal pain were included in the analysis. An unexpected finding was the FOXP2 gene that is necessary for the development of the brain zones responsible for speech. Mutations of this gene are associated with speech therapies and speech disorders. How exactly FOXP2 affects the occurrence of chronic pain has not been identified.

In addition to detecting genes, the scientists demonstrated a gene level relationship between chronic musculoskeletal pain and various diseases, as well as a number of anthropometric, sociodemographic, and psychological signs (osteoarthritis, overweight, smoking, depression, neuroticism, number of children, duration of sleep, etc.). These results are consistent with the biopsychosocial model of pain that considers pain the result of a complex and dynamic interaction of biological, psychological, and social factors.