Independent Researcher
Question
Asked 3 November 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
Dear Chen Yu, thank you very much for your detailed answer, complete explanation of the question asked and rating! This allows us to formulate a direction for further research into the identified case of desminopathy. Unfortunately, a list of protocols with additional information to solve this problem was not attached at the end of the answer.
Best regards.
All Answers (11)
Independent Researcher
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?
Independent Researcher
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
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Independent Researcher
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
Independent Researcher
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?
Independent Researcher
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
Sichuan University
Dear Esteemed Colleague,
Greetings. I trust this message finds you deeply engaged in your research and seeking answers to complex questions within the realm of genetics and molecular pathology. Your inquiry regarding the potential role of infection in causing desmin mutations in myofibrillar myopathy is both intriguing and indicative of a keen scientific mind exploring the multifaceted nature of genetic disorders.
To address your question with the precision and clarity it deserves, it is crucial to first understand the nature of myofibrillar myopathies and the role of desmin within this context. Myofibrillar myopathies are a group of neuromuscular disorders characterized by the progressive weakening of muscles and the disintegration of muscle fibers at a cellular level. Desmin, a type of intermediate filament protein, plays a pivotal role in maintaining the structural integrity and function of muscle cells. Mutations in the DES gene, which encodes the desmin protein, are directly linked to certain forms of myofibrillar myopathy.
The genesis of these mutations, particularly those affecting the desmin protein, is primarily genetic, resulting from inherited or de novo mutations in the DES gene. These mutations lead to the production of an abnormal desmin protein, which disrupts the normal architecture of muscle cells, leading to the symptoms associated with myofibrillar myopathy.
Addressing the specific question of whether an infection could cause desmin mutations, it is essential to differentiate between the origins of genetic mutations and factors that may exacerbate the phenotype of a genetic disorder. Genetic mutations, including those affecting the desmin gene, arise from alterations in the DNA sequence. These alterations can be inherited from parents, occur spontaneously during DNA replication, or be induced by certain environmental factors, such as exposure to specific chemicals or radiation. Infections, while capable of causing a wide array of health issues, do not directly induce genetic mutations in the DNA sequence of the genes like DES. However, it is conceivable that certain infections could exacerbate the clinical manifestations of myofibrillar myopathy in individuals already predisposed or carrying a desmin mutation, by stressing the muscular system or triggering inflammatory responses that may further compromise muscle function.
In conclusion, while infections can have significant impacts on overall health and may interact in complex ways with genetic disorders, the mutations in the DES gene that cause myofibrillar myopathy are not directly caused by infections. The mutations are genetic in origin, and the relationship between infections and the severity or progression of myofibrillar myopathy would be more accurately viewed through the lens of infection exacerbating pre-existing conditions rather than causing the genetic mutation itself.
I hope this elucidation addresses your inquiry comprehensively. Should you have further questions or require additional clarification, please feel free to reach out.
Warm regards.
This protocol list might provide further insights to address this issue.
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Independent Researcher
Dear Chen Yu, thank you very much for your detailed answer, complete explanation of the question asked and rating! This allows us to formulate a direction for further research into the identified case of desminopathy. Unfortunately, a list of protocols with additional information to solve this problem was not attached at the end of the answer.
Best regards.
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