New aspect of studying the mechanisms of development of the lungs ventilation capacity disorders in children with bronchial asthma
Keywordsgene, polymorphism, alpha-actinin-3, bronchial asthma, lungs ventilation capacity, children
Purpose. Study of the pathogenetic role of the polymorphism of the ACTN3 gene (actinin, alpha 3) rs1815739 in the development of lungs ventilation capacity disorders in children with bronchial asthma.
Materials and methods. To study the polymorphism of ACTN3 gene (actinin, alpha 3) rs1815739, the molecular and genetic study of 90 children aged from 6 to 18 years with bronchial asthma, who were passing in-patient treatment at the Allergy Department of the Municipal Non-Profit Enterprise "Children's Hospital no.5" of Zaporizhia City Council, and 25 healthy children (control group) was conducted. The external respiration function was studied using a computer spirograph "PULMOREM" TU U 33.1-02066769-005-2002 (Kharkiv). The study of the polymorphism of the ACTN3 gene (actinin, alpha 3) rs1815739 was performed in the Division of Molecular Genetic Researches of the Training Medical Laboratory Center at the Department of Microbiology of Zaporizhia State Medical University in Zaporizhia on the CFX96TM Real-Time PCR Detection Systems amplifier (Bio-Rad laboratories Inc., USA) with extraction of DNA from venous blood by means of polymerase-chain reaction. The results of the study were processed using statistical analysis of the license software package Statistica for Windows 6.1.RU, serial number AXXR712D833214SAN5.
Results. The study of the distribution of allelic genes and genotypes of ACTN3 (actinin, alpha 3) polymorphism for rs1815739 showed that among children with bronchial asthma, the homozygous C/C genotype was recorded in 37.7% of cases, heterozygous C/T genotype in 40% of cases, homozygous T/T genotype in 22.3% of cases, while in healthy children, the frequencies of the homozygous C/C (68%) and T/T (4%) genotypes were significantly more frequent. The indicators of external respiration function (forced vital capacity (FVC), forced expiratory volume at the 1-second (FEV1)) in patients with a homozygous C/C genotype were significantly lower than in patients with homozygous T/T genotype and were 2.69 (1.9; 3.49) vs. 3.11 (2.47; 4, 14) and 2.06 (1.6; 2.76) vs. 2.82 (2.02; 3.51). The patency of large and small bronchi, characterized by spirographic MEF25 and MEF75 indicators, was significantly better in children with bronchial asthma with homozygous T/T genotype than in children with C/T and C/C genotypes (5.46 (4.87; 6, 31) and 2.36 (1.89; 3.32) against 4.54 (3.69; 5.43) and 4. 17 (3.24; 5.44), and 1.88 (1.10; 2.56) and 1.69 (1.16; 2.02), respectively. In children with bronchial asthma and the C/C and C/T genotypes of ACTN3 gene (actinin, alpha 3) rs1815739 with probable sufficient synthesis of alpha-actinin-3 protein in muscles, a stronger contraction of the respiratory muscles on inhalation is possible, and in patients with the T/T genotype, which encodes insufficient synthesis of alpha-actinin-3 protein in the muscles, the muscle contraction is probably less pronounced in asthma attacks, which can lead to less pronounced disorders of lungs ventilation capacity.
Conclusions. The study of ACTN3 (actinin, alpha 3) rs1815739 gene polymorphism showed that the C / C and C / T genotypes were associated with impaired lung ventilation in children with bronchial asthma.
Volosovets, A.P., Krivopustov, S.P., Makuha, N.T., Kupkina A.V. (2016) Features of Bronchial Asthma in Children with Overweight and Obesity. CHILD`S HEALTH, 8 (68), 51-55. https://doi.org/10.22141/2224-05184.108.40.2065.75182.
Chumachenko, N.G. (2016) Clinical and Anamnestic Features of Bronchial Asthma in Children from an Ecologically Unfavorable Region, Perinatologiya i pediatriya, 3 (67), 98-101.https://doi.org/ 10.15574 / PP.2016.67.98
Drannik, G. N. (2006) Clinical immunology and allergology: a manual for students, interns, immunologists, allergologists, medical doctors of all specialties, M, 552.
Global Strategy for Asthma Management and Prevention. Revised 2019 [Electronic resource] /National institutes of health. National Heart, lung and Blood Institute. Revised 2019 Access mode: http://www.ginasthma.org. — Title from screen.
Sokolenko, V.N., Vesnina, L.E., Zhukova, M.Yu., Mishchenko, I.V., Tkachenko, O.V. (2019). Physiology of the respiratory system, Poltava, 160.
Okhotnikova, E.N., Sharikadze E.V. (2015) Bronchial asthma and allergic rhinitis in children under 6 years of age: features of the treatment of comorbid pathology, Perinatologiya i pediatriya, 7 (71), 111-116. https://doi.org/ 10.15574 / SP.2015.71.111
Pertseva, T.A., Konopkina, L.I. (2008) Fundamentals of the study of ventilation function of the lungs: clinical diagnostic value,Toolkit for doctors and students of medical universities, Dnepr, 66.
Zhang, Q., Cao Y., Chen J., Shen J., Ke, D., Wang X., Ji, J., Xu, Y., Zhang, W., Shen, Y., Wang, D., Pan, D., Wang, Z., Shi, Y., Cheng, S., Zhao, Y., Lu, D. (2019) ACTN3 Is Associated With Children's Physical Fitness in Han Chinese, Mol Genet Genomics, 294 (1), 47-56. https://doi.org/10.1007/s00438-018-1485-7.
Lavoie, T. L., Dowell, M. L., Lakser, O. J., Gerthoffer, W. T., Fredberg, J. J., Seow, C.Y., Mitchell, R.W., Solway, J. (2009) Disrupting Actin-Myosin-Actin Connectivity in Airway Smooth Muscle as a Treatment for Asthma?.Proc Am ThoracSoc, 6 (3), 295–300. https://doi: 10.1513/pats.200808-078RM
Gransee, H.M., Mantilla, C.B., Sieck, G.C. (2012) Respiratory Muscle Plasticity. Compr Physiol, 2(2), 1441–1462. https://doi.org/ 10.1002/cphy.c110050
Pickering, C., Kiely, J. (2017) ACTN3: More than Just a Gene for Speed. Front. Physiol, 18 December. https://doi.org/10.3389/fphys.2017.01080
Tharabenjasin, P., Pabalan, N., Jarjanazi, H. (2020) Association of the ACTN3 R577X (Rs1815739) Polymorphism with Elite Power Sports: A Meta-Analysis, PLOS ONE, 30May, 20.https://doi.org/10.1371/journal.pone.0217390
Yvert, T., Santiago, C., Santana-Sosa, E., Verde, Z., MezGallego, F.G., Lopez-Mojares, L., Prez, M. (2015) Polymorphisms in Children with Cystic Fibrosis, Pediatric Exercise Science, 27, 102-112. http://dx.doi.org/10.1123
Sorokina, E.Yu., Keshabyants, E.E., Denisova, N.N. (2019) Тhe Study of Association of Gene Polymorphism with Sports Success and Risk of Alimentary-Dependent Diseases in Athletes Representing Cyclic Sports.Sports Medicine: Science and Practice, 9 (3), 41 - 48. https://doi.org/10.17238/ISSN2223-2524.2019.3.41.
Chen, W., Zhang, B., Li, Y., Liang, T. (2020) Association Between rs1815739 Polymorphism of ACTN3 Gene and Athletic Ability in Chinese Sprinters, Journal of Science in Sport and Exercise, 2, 113–119. https://doi.org/10.1007/s42978-020-00058-1.
Houweling, P.J., Papadimitriou, I.D., Seto, J.T., Laura, M.P., Del Coso, J., North, K.N., Lucia, A., Eynon, N. (2018) Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease. Human Mutation Wiley Online Library. https://doi.org/10. 1002/humu.23663
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