CHANGE CHARACTERISTICS IN SALIVA AND FECES MICROBIOTA OF A DESMINOPATHY T341P PATIENT

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.