Full genomic profiling of gene expression in selected muscle tissue biopsy specimens from myofascial pain syndrome (pilot comparison of muscle biopsy transcriptomes)

Introduction. Myofascial pain syndrome (MFPS) is one of the most frequent musculoskeletal pathologies causing chronic pain. This type of pain reaches the peak of prevalence in middle-aged individuals, women are affected 2,5 times more often than men. The disease leads to significant disability and is not only a medical but also a social problem. At the same time, a number of authors still note the low clinical efficacy of the applied therapy schemes. In this situation, further study of the pathogenesis of MFPS, in particular, genetic aspects of realization of this condition.

The aim of the study was to perform full genomic profiling of gene expression (transcriptome study) in selected muscle tissue biopsy specimens of individual patients and control individuals.

Materials and methods. To study the genetic aspects of MFPS realization, gene expression profiling in muscle tissue samples by full genome RNA sequencing (RNA-Seq) was performed in 5 patients suffering from myofascial brachial pain syndrome (2 patients with active form of MFPS, 3 — with latent form).

Results. The transcriptome analysis of muscle tissue samples from the MFPS area revealed a statistically significant 6-10-fold increase in the expression of the ENSG00000148677:ANKRD1 (ankyrin repeat domain 1) gene in the subgroup of patients with latent form of MFPS compared to active form of MFPS.

Conclusion. The results of the studies allowed to suggest that one of the factors of the latent form of MFPS realization may be adaptive hyperexpression of the gene encoding ANKRD1 protein, which regulates myofibrils tension, myoblasts differentiation, lipid metabolism, affects the development of neuronal connections.

1. Chen C. K., Nizar A. J. Myofascial pain syndrome in chronic back pain patients. Korean J. Pain. 2011;24(2):100–104. https://doi.org/10.3344/kjp.2011.24.2.100

2. Novikova L. B., Akopyan A. P. Myofascial pain syndrome. S. S. Korsakov J. Neurol. Psychiat. 2015; 115 (10): 21–24. https://doi.org/10.17116/jnevro201511510121-24 (in russ.).

3. ИIvanichev G. A. Sensory disintegration in neuropathology. Kazan: Med. book; 2015: 400 p. (in russ.).

4. Simons D. G. Clinical and etiological update of myofascial pain from trigger points. J. Musculoskelet. Pain. 1996; 4 (1–2): 93–122. https://doi.org/10.1300/j094v04n01_07

5. Dommerholt J., Bron C., Franssen J. Myofascial trigger points: an evidence-informed review. J. Manual Manipulat. Ther. 2006; 14 (4): 203–221. https://doi.org/10.1179/106698106790819991

6. Ivanichev G. A. Myofascial pain. Kazan: Volga-Business; 2007: 392 p. (in russ.).

7. Novikov Yu. O., Belash V. O., Novikov A. Yu. Modern views on etiology and pathogenesis of cervical pain syndromes: literature rewiew. Russ. Osteopath. J. 2019; 3–4: 164–173. https://doi.org/10.32885/2220-0975-2019-3-4-164-173 (in russ.).

8. Safi ullina A. A., Ivanichev G. A., Cherepnev G. V. et al. Clinical and immunologic aspects of myofascial pain. Pract. Med. 2018; 16 (10): 126–129 (in russ.).

9. Mokhov D. E., Belash V. O., Aptekar I. A., Nenashkina E. N., Potekhina Yu. P., Tregubova E. S., Belyaev A. F. Somatic Dysfunction: Clinical Guidelines 2023. Russ. Osteopath. J. 2023; 2: 8–90. https://doi.org/10.32885/2220-0975-2023-2-8-90 (in russ.).

10. Kryzhanovsky G. N. General pathophysiology of the nervous system. M.: Medicine; 1997: 350 p. (in russ.).

11. Zhao S., Fung-Leung W. P., Bittner A. et al. Comparison of RNA-Seq and microarray in transcriptome profi ling of activated T cells. PLoS One. 2014; 9: e78644. https://doi.org/10.1371/journal.pone.0078644

12. Goeman F., Fanciulli M. Application of RNA-Seq technology in cancer chemoprevention. Methods molec. Biol. 2016; 1379: 31–43.

13. R Core Team (2018). R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria: website. Available from: https://www.R-project.org/. Accessed May 28, 2018.

14. Genecards. Human gene database: website. Available from: http://www.genecards.org/cgi-bin/carddisp.pl?gene= ENSG00000148677. Accessed May 28, 2018.