Genetic mutations associated with severe respiratory diseases
https://doi.org/10.18470/1992-1098-2024-4-3
Abstract
Aim. To analyze existing data on the impact of mutations in the human genome on the pathogenesis of respiratory viral infections and to discuss their relevance to clinical practice. The primary objectives include describing the mechanisms of genetic mutations, reviewing examples of genes and mutations that affect susceptibility and disease severity and evaluating the prospects for genetic testing and personalized medicine.
Research on genetic factors influencing viral respiratory infections demonstrates the significant impact of mutations on disease progression and outcomes. For instance, the IFITM3 gene, which plays a crucial role in limiting influenza virus replication, along with its rs12252‐C polymorphism, is linked to severe cases of influenza. Similarly, mutations in the TLR7 gene are associated with severe manifestations of COVID‐19, particularly in males. These findings underscore the importance of genetic testing to identify individuals at heightened risk for severe infections and emphasize the potential of personalized medicine to enhance patient outcomes. Additionally, it is essential to consider the interplay between genetic factors and environmental as well as social determinants of health.
This review examines the genetic factors that influence susceptibility to viral respiratory infections and the severity of disease progression. It demonstrates that genetic mutations can significantly affect the pathogenesis and course of these infections. The importance of integrating genetic data into clinical practice to enhance the efficiency of diagnosis, prognosis and treatment is emphasized.
Keywords
Genetic mutations,
respiratory infections,
viruses,
pathogenesis,
disease severity,
influenza virus,
COVID‐19
Supporting agencies: The study was supported by Russian Science Foundation (project no. 23‐64‐00005). The Laboratory of Genomics and Evolution of Viruses was supported by the State‐funded budget project (no. 122120600015‐2).
About the Authors
A. D. Moshkin
Research Institute of Virology, Federal Research Centre of Fundamental and Translational Medicine
Russian Federation
Russian Federation
Alexey D. Moshkin, Junior Researcher, Laboratory of Virus Genomics and Evolution
2 Timakova St, Novosibirsk, 630060. Tel. +7 (906) 908 82‐45
K. A. Stolbunova
Research Institute of Virology, Federal Research Centre of Fundamental and Translational Medicine
Russian Federation
Russian Federation
Kristina A. Stolbunova
Novosibirsk
A. D. Matsvay
Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency (Centre for Strategic Planning of the Federal Medical and Biological Agency)
Russian Federation
Russian Federation
Alina D. Matsvay
Moscow
O. V. Ohlopkova
Research Institute of Virology, Federal Research Centre of Fundamental and Translational Medicine
Russian Federation
Russian Federation
Olesia V. Ohlopkova
Novosibirsk
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Moshkin A.D., Stolbunova K.A., Matsvay A.D., Ohlopkova O.V. Genetic mutations associated with severe respiratory diseases. South of Russia: ecology, development. 2024;19(4):28-40. (In Russ.) https://doi.org/10.18470/1992-1098-2024-4-3
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