Northern Trans-Ural State Agricultural University, Russia, Tyumen
Question
Asked 3rd Nov, 2020
Could the desmin mutation in myofibrillar myopathy be caused by an infection?
A patient with desminopathy (mutation Thr341Pro DES in a heterozygous state) with the progression of the disease has a decrease in taste and smell, immunosuppression, and an increase in IgA in the blood.
Oddly enough, but all this is characteristic of infections, including viral ones. For example, it is known that if the hepatitis C virus is not treated, then death will occur in 20 years.
In the identified case of late onset desminopathy, muscle weakness manifests itself at the age of 30, and death occurs 20 years after the onset of the disease.
Could the desmin mutation in myofibrillar myopathy be caused by an infection?
Perhaps the infection contributes to the progression of desminopathy?
Most recent answer
With the progression of the detected case of desminopathy, the appearance of viruses and gram-negative rods was established, there was an excessive bacterial growth of the fecal microbiota with a pronounced increase in transient microorganisms, an increase in endotoxin. The results are presented in the article: https://www.researchgate.net/publication/372952519_CHANGE_CHARACTERISTICS_IN_SALIVA_AND_FECES_MICROBIOTA_OF_A_DESMINOPATHY_T341P_PATIENT
All Answers (9)
Northern Trans-Ural State Agricultural University, Russia, Tyumen
Dear Chinaza Godswill Awuchi, thank you very much for the links to the articles. But unfortunately, the information provided does not contain information about a possible connection between infection and desminopathy.
Ferdowsi University Of Mashhad
Dear Dr. Pauls
I’m not a clinician, but are you sure that these symptoms are not because of COVID-19?
Northern Trans-Ural State Agricultural University, Russia, Tyumen
Dear Tara Akhtarkhavari, thanks for your reply! We have been observing the development of these symptoms in a case of desminopathy for 10 years already.
Yes, these symptoms are typical not only for COVID-19, but also for other infections, including viral ones. We are confident that these symptoms in the patient are not due to COVID-19.
Azienda Unità Sanitaria Locale 4 Prato
Theoretically it wolud be possible but extremely rare, because the virus or other infectious agents should be present in all the cells with the mutation modifying DNA in the same way; instead the most likely thing is that a virus, eg Epstein Barr virus, may have been off the hook a pre-existing mutations silent until the infection
Northern Trans-Ural State Agricultural University, Russia, Tyumen
Dear Massimo Zipoli, thank you very much for your reply! As you know, desmin is expressed in all types of muscle cells (skeletal, smooth, cardiac muscles, diaphragm), as well as in tumor cells.
In this family with desminopathy, we identified a large number of cancers (n = 6): bladder (2 cases in men), prostate, skin, uterus, rectum (article in the appendix). For example, it is known that dysfunction and pathological changes in the smooth muscles of the bladder are associated with the overexpression of desmin.
Thus, the likelihood of infecting cells with the mutation is quite high.
Article
Northern Trans-Ural State Agricultural University, Russia, Tyumen
A patient with desminopathy survived Covid-19 six months ago without pneumonia, but with a temporary loss of smell and taste. After Covid-19, we note an accelerated progression of desminopathy, penetration accelerates, new muscles are quickly involved in the pathological process, muscle mass decreases, and heart function worsens. Perhaps the infection or its consequences are somehow connected with the mechanism of progression of desminopathy?
Northern Trans-Ural State Agricultural University, Russia, Tyumen
With the progression of the detected case of desminopathy, the appearance of viruses and gram-negative rods was established, there was an excessive bacterial growth of the fecal microbiota with a pronounced increase in transient microorganisms, an increase in endotoxin. The results are presented in the article: https://www.researchgate.net/publication/372952519_CHANGE_CHARACTERISTICS_IN_SALIVA_AND_FECES_MICROBIOTA_OF_A_DESMINOPATHY_T341P_PATIENT
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