CHANGE CHARACTERISTICS IN SALIVA AND FECES MICROBIOTA OF A DESMINOPATHY T341P PATIENT
Abstract
Background. A rare muscular disease, desminopathy, is caused by mutations in the DES gene. At present, information about changes in the microbiota of biological media present in such patients is very scarce.
Purpose. The aim of the study is to study changes in the saliva and feces microbiota of patients with desminopathy T341P in a heterozygous state.
Materials and methods. The retrospective investigation comprised observation of the observation of a proband with the family form of desminopathy T341P. 56 clinically significant microorganisms were numerically analyzed immediately in the obtained biological material by gas chromatography-mass spectrometry method.
Results. The emergence of Epstein-Barr viruses, Cytomegalovirus, Herpes spp and gram-negative rods was noted in the proband’s biological media under investigation during the desminopathy progression. Excessive bacterial growth of fecal microbiota was observed along with a decrease in saliva microorganisms. There is an excess of the norm in the total number of microorganisms and an increase in their species diversity. Propionibacterium jensenii, Eubacterium spp and Eggerthella lenta predominated in the feces and Clostridium ramosum – in the saliva. An increase in fecal microbiota transient with Peptostreptococcus anaerobius 18623 dominance was observed along with the emergence and rapid 441-time growth of potentially dangerous bacterium Clostridium difficile. The total level of endotoxin in the proband’s saliva and fecal microbiota increases to exceed the norm in 13.7 and 81.8 times, respectively. At the same time, a low level of plasmalogen was noted.
Conclusion. The investigation results can be useful for developing complex intervention tactics.
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Kazarin D.D., Shklyaev A.E., Bolkiseva P.S., Petrova E.V. The use of a specific GSRS questionnaire for differential diagnosis of diseases of the gastrointestinal tract. Siberian Journal of Life Sciences and Agriculture, 2022, vol. 14, no. 1, pp. 163-180. https://doi.org/10.12731/2658-6649-2022-14-1-163-180
Shklyaev A.E., Grigorieva O.A., Merzlyakova Yu.S., Maksimov K.V., Kazarin D.D. Influence of eating behavior, fat distribution and physical activity on symptoms of functional gastrointestinal disorders. Siberian Journal of Life Sciences and Agriculture, 2021, vol. 13, no. 3, pp. 46-62. https://doi.org/10.12731/2658-6649-2021-13-3-46-62
Stavinskaya O.A., Dobrodeeva L.K., Patrakeeva V.P. Comparison of expression of immune responses depending on level of peripheral blood lymphocyte necrosis and apoptosis in humans. Siberian Journal of Life Sciences and Agriculture, 2021, vol. 13, no. 4, pp. 209-223. https://doi.org/10.12731/2658-6649-2021-13-4-209-223
Beltrán-Barrientos L.M., García H.S., Hernández-Mendoza A. et al. Invited review: Effect of antihypertensive fermented milks on gut microbiota. Journal of Dairy Science, 2021, vol. 104, no. 4, pp. 3779-3788. https://doi.org/10.3168/jds.2020-19466
Bescos R., Brookes Z.L., Belfield L.A. et al. Modulation of oral microbiota: A new frontier in exercise supplementation. PharmaNutrition, 2020, vol. 14, с. 100230. https://doi.org/10.1016/j.phanu.2020.100230
Cerdá B., Pérez M., Pérez-Santiago J.D. et al. Gut Microbiota Modification: Another Piece in the Puzzle of the Benefits of Physical Exercise in Health? Frontiers in physiology, 2016, vol. 7, p. 51. https://doi.org/10.3389/fphys.2016.00051
Clemen C.S., Herrmann H., Strelkov S.V., Schröder R. Desminopathies: pathology and mechanisms. Acta neuropathologica, 2013, vol. 125, no. 1, pp. 47-75. https://doi.org/10.1007/s00401-012-1057-6
Dort J., Fabre P., Molina T., Dumont N.A. Macrophages are key regulators of stem cells during skeletal muscle regeneration and diseases. Stem Cells international, 2019, vol. 2019, pp. 1-20. https://doi.org/10.1155/2019/4761427
Gizard F., Fernandez A., De Vadder F. Interactions between gut microbiota and skeletal muscle. Nutrition and Metabolic Insights, 2020, vol. 13, 1178638820980490. https://doi.org/10.1177/1178638820980490
González-Soltero R., Bailén M., de Lucas B. et al. Role of oral and gut microbiota in dietary nitrate metabolism and its impact on sports performance. Nutrients, 2020, vol. 12, no. 12, 3611. https://doi.org/10.3390/nu12123611
Kulikova O., Brodehl A., Kiseleva A. et al. The desmin (DES) mutation p. A337P is associated with left-ventricular non-compaction cardiomyopathy. Genes, 2021, vol. 12, no. 1, p. 121. https://doi.org/10.3390/genes12010121
Linsalata M., Riezzo G., D’Attoma B. et al. Noninvasive biomarkers of gut barrier function identify two subtypes of patients suffering from diarrhoea predominant-IBS: a case-control study. BMC gastroenterology, 2018, vol. 18, no. 1, pp. 1-14. https://doi.org/10.1186/s12876-018-0888-6
Osipov G., Verkhovtseva N. Study of human microecology by mass spectrometry of microbial markers. Beneficial microbes, 2011, vol. 2, no. 1, pp. 63-78. https://doi.org/10.3920/BM2010.0017
Osipov G.A., Boiko N.B., Fedosova N.F. et al. Comparative gas chromatography-mass spectrometry study of the composition of microbial chemical markers in feces. Microbial Ecology in Health and Disease, 2009, vol. 21, no. 3-4, pp. 159-171. https://doi.org/10.3109/08910600903462657
Pauls V.Yu. A review of clinical data of family form of myofibrillar desmin myopathy. Systematic Reviews in Pharmacy, 2019, vol. 10, no. 2, pp. 130-136. https://doi.org/10.5530/srp.2019.2.21
Pauls V.Yu. Change in redox status and biochemical parameters in patient with desminopathy T341P several years after disease symptoms onset. Journal of Pharmaceutical Negative Results, 2021, vol. 12, no. 2, pp. 24-28. https://doi.org/10.47750/pnr.2021.12.02.004
Pauls V.Yu. Dynamics of immune status in myofibrillar myopathy with the T341P DES mutation. Systematic Reviews in Pharmacy, 2020, vol. 11, no. 9, pp. 818-824. https://doi.org/10.31838/srp.2020.9.116
Peng X., Cheng L., You Y. et al. Oral microbiota in human systematic diseases. International Journal of Oral Science, 2022, vol. 14, no. 1, pp. 1-11. https://doi.org/10.1038/s41368-022-00163-7
Przewłócka K., Folwarski M., Kaźmierczak-Siedlecka K. et al. Gut-muscle axis exists and may affect skeletal muscle adaptation to training. Nutrients, 2020, vol. 12, no. 5, 1451. https://doi.org/10.3390/nu12051451
Ruppert T., Heckmann M.B., Rapti K. et al. AAV-mediated cardiac gene transfer of wild-type desmin in mouse models for recessive desminopathies. Gene therapy, 2020, vol. 27, no. 10, pp. 516-524. https://doi.org/10.1038/s41434-020-0147-7
Schröder R., Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain pathology, 2009, vol. 19, no. 3, pp. 483-492. https://doi.org/10.1111/j.1750-3639.2009.00289.x
Smits W.K., Lyras D., Lacy D.B. et al. Clostridium difficile infection. Nature reviews Disease primers, 2016, vol. 2, no. 1, pp. 1-20. https://doi.org/10.1038/nrdp.2016.20
Smolina N., Khudiakov A., Knyazeva A. et al. Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties. BBA-Molecular Basis of Disease, 2020, vol. 1866, no. 6, с. 165745. https://doi.org/10.1016/j.bbadis.2020.165745
Spörrer M., Kah D., Gerum R.C. et al. The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues. Neuropathology and Applied Neurobiology, 2022, vol. 48, no. 3, e12784. https://doi org/10.1111/nan.12784
Thomas C., Minty M., Vinel A. et al. Oral microbiota: A major player in the diagnosis of systemic diseases. Diagnostics, 2021, vol. 11, no. 8, 1376. https://doi.org/10.3390/diagnostics11081376
Yoo J.Y., Groer M., Dutra S.V.O. et al. Gut microbiota and immune system interactions. Microorganisms, 2020, vol. 8, no. 10, 1587. https://doi.org/10.3390/microorganisms8101587
Список литературы
Казарин Д.Д., Шкляев А.Е., Болкисева П.С., Петрова Е.В. Применение специфического опросника GSRS для дифференциальной диагностики заболеваний органов пищеварения // Siberian Journal of Life Sciences and Agriculture. 2022. Т. 14, № 1. C. 163-180. https://doi.org/10.12731/2658-6649-2022-14-1-163-180
Шкляев А.Е., Григорьева О.А., Мерзлякова Ю.С., Максимов К.В., Казарин Д.Д. Влияние пищевого поведения, распределения жира и физической активности на симптомы функциональных гастроинтестинальных расстройств // Siberian Journal of Life Sciences and Agriculture. 2021. Т. 13, № 3. C. 46-62. https://doi.org/10.12731/2658-6649-2021-13-3-46-62
Ставинская О.А., Добродеева Л.К., Патракеева В.П. Влияние некроза и апоптоза лимфоцитов на выраженность иммунных реакций // Siberian Journal of Life Sciences and Agriculture. 2021. Т. 13, № 4. C. 209-223. https://doi.org/10.12731/2658-6649-2021-13-4-209-223
Beltrán-Barrientos L.M., García H.S., Hernández-Mendoza A. et al. Invited review: Effect of antihypertensive fermented milks on gut microbiota // Journal of Dairy Science. 2021. T. 104, №. 4. C. 3779-3788. https://doi.org/10.3168/jds.2020-19466
Bescos R., Brookes Z.L., Belfield L.A. et al. Modulation of oral microbiota: A new frontier in exercise supplementation // PharmaNutrition. 2020. T. 14. C. 100230. https://doi.org/10.1016/j.phanu.2020.100230
Cerdá B., Pérez M., Pérez-Santiago J.D. et al. Gut Microbiota Modification: Another Piece in the Puzzle of the Benefits of Physical Exercise in Health? // Frontiers in physiology. 2016. T. 7. C. 51. https://doi.org/10.3389/fphys.2016.00051
Clemen C.S., Herrmann H., Strelkov S.V., Schröder R. Desminopathies: pathology and mechanisms // Acta neuropathologica. 2013. T. 125, №. 1. C. 47-75. https://doi.org/10.1007/s00401-012-1057-6
Dort J., Fabre P., Molina T., Dumont N.A. Macrophages are key regulators of stem cells during skeletal muscle regeneration and diseases // Stem Cells international. 2019. T. 2019. C. 1-20. https://doi.org/10.1155/2019/4761427
Gizard F., Fernandez A., De Vadder F. Interactions between gut microbiota and skeletal muscle // Nutrition and Metabolic Insights. 2020. T. 13. C. 1178638820980490. https://doi.org/10.1177/1178638820980490
González-Soltero R., Bailén M., de Lucas B. et al. Role of oral and gut microbiota in dietary nitrate metabolism and its impact on sports performance // Nutrients. 2020. T. 12, №. 12. C. 3611. https://doi.org/10.3390/nu12123611
Kulikova O., Brodehl A., Kiseleva A. et al. The desmin (DES) mutation p. A337P is associated with left-ventricular non-compaction cardiomyopathy // Genes. 2021. T. 12, №. 1. C. 121. https://doi.org/10.3390/genes12010121
Linsalata M., Riezzo G., D’Attoma B. et al. Noninvasive biomarkers of gut barrier function identify two subtypes of patients suffering from diarrhoea predominant-IBS: a case-control study // BMC gastroenterology. 2018. T. 18, №. 1. C. 1-14. https://doi.org/10.1186/s12876-018-0888-6
Osipov G., Verkhovtseva N. Study of human microecology by mass spectrometry of microbial markers // Beneficial microbes. 2011. T. 2, №. 1. C. 63-78. https://doi.org/10.3920/BM2010.0017
Osipov G.A., Boiko N.B., Fedosova N.F. et al. Comparative gas chromatography-mass spectrometry study of the composition of microbial chemical markers in feces // Microbial Ecology in Health and Disease. 2009. T. 21, №. 3-4. C. 159-171. https://doi.org/10.3109/08910600903462657
Pauls V.Yu. A review of clinical data of family form of myofibrillar desmin myopathy // Systematic Reviews in Pharmacy. 2019. T. 10, №. 2. C. 130-136. https://doi.org/10.5530/srp.2019.2.21
Pauls V.Yu. Change in redox status and biochemical parameters in patient with desminopathy T341P several years after disease symptoms onset // Journal of Pharmaceutical Negative Results. 2021. T. 12, №. 2. C. 24-28. https://doi.org/10.47750/pnr.2021.12.02.004
Pauls V.Yu. Dynamics of immune status in myofibrillar myopathy with the T341P DES mutation // Systematic Reviews in Pharmacy. 2020. T. 11, №. 9. C. 818-824. https://doi.org/10.31838/srp.2020.9.116
Peng X., Cheng L., You Y. et al. Oral microbiota in human systematic diseases // International Journal of Oral Science. 2022. T. 14, №. 1. C. 1-11. https://doi.org/10.1038/s41368-022-00163-7
Przewłócka K., Folwarski M., Kaźmierczak-Siedlecka K. et al. Gut-muscle axis exists and may affect skeletal muscle adaptation to training // Nutrients. 2020. T. 12, №. 5. C. 1451. https://doi.org/10.3390/nu12051451
Ruppert T., Heckmann M.B., Rapti K. et al. AAV-mediated cardiac gene transfer of wild-type desmin in mouse models for recessive desminopathies // Gene therapy. 2020. T. 27, №. 10. C. 516-524. https://doi.org/10.1038/s41434-020-0147-7
Schröder R., Schoser B. Myofibrillar myopathies: a clinical and myopathological guide // Brain pathology. 2009. T. 19, №. 3. C. 483-492. https://doi.org/10.1111/j.1750-3639.2009.00289.x
Smits W.K., Lyras D., Lacy D.B. et al. Clostridium difficile infection // Nature reviews Disease primers. 2016. T. 2, №. 1. C. 1-20. https://doi.org/10.1038/nrdp.2016.20
Smolina N., Khudiakov A., Knyazeva A. et al. Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties // BBA-Molecular Basis of Disease. 2020. T. 1866, №. 6. C. 165745. https://doi.org/10.1016/j.bbadis.2020.165745
Spörrer M., Kah D., Gerum R.C. et al. The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues // Neuropathology and Applied Neurobiology. 2022. T. 48, №. 3. C. e12784. https://doi.org/10.1111/nan.12784
Thomas C., Minty M., Vinel A. et al. Oral microbiota: A major player in the diagnosis of systemic diseases // Diagnostics. 2021. T. 11, №. 8. C. 1376. https://doi.org/10.3390/diagnostics11081376
Yoo J.Y., Groer M., Dutra S.V.O. et al. Gut microbiota and immune system interactions // Microorganisms. 2020. T. 8, №. 10. C. 1587. https://doi.org/10.3390/microorganisms8101587
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