THE FEATURES GENETIC POLYMORPHISM OF GENE LOCI AND MORPHO-PHYSIOLOGICAL TRAITS IN DUST PULMONARY DISEASE
Introduction. Features of the metabolism of most substances in the body are determined by a complex system of enzymatic reactions. Research results in the art can justify the criteria of individual risk prognosis of occupational diseases and the so-called "ecologically production or due to pathology," more versatile and given reason conduct prevention, medical monitoring of workers, professional orientation to solve the issues of rational employment of persons with specific genotypic and phenotypic characteristics of the organism.
Objective: To conduct analysis of the hereditary polymorphism on the complex biological systems at the same time determining the activity or level of enzyme and other proteins and glycoproteins which play a direct role in the development of inflammatory and destructive processes, as well as the evaluation neuro-endocrine system, as the main factor the genotype and the regulation of the main the vital functions among workers in an unfavorable production environment.
Methods: Clinical and immunological, experimental, prospective study of 415 workers from the plant refractories diagnosis of occupational diseases of broncho-pulmonary system. Biochemical and genetic studies were carried among patients broncho-pulmonary diseases unprofessional genesis in comparative terms. The control group – 250 generally healthy persons without occupational contact, as well as chronic and acute diseases of the broncho-pulmonary system. In complex of parameters were included protein systems, which play an important role in the pathogenetic mechanisms of diseases of the broncho-pulmonary system. The workers on survey have informed consent.
Results: presented in the work data indicates that the blood genetic markers can be used to predict chance of developing an individual CLD in workers conditions in industrial dust impacts, along with other risk factors and resistance. Their value is not equivalent as applied to individual indicators, and in relation different nosologic forms CLD. This is considering the significant lability of immunological reactivity is a need for a differentiated use of immunological markers in predicting the probability of formation of CLD at industrial dust action.
Conclusions: 1. Results of complex hygienic, experimental, clinical, physiological and genetic studies allow us to confidently consider chronic dust lung disease as multifactorial, in the formation which take part not only the industrial dust, but also a variety of endogenous and genetic factors. 2. System analysis of the data is a scientific justification new genetic concept of primary prevention occupational diseases and can be used in a variety of clinical conditions.
Boris B. Fishman 1, http://orcid.org/0000-0002-2211-5998
Talgat N. Khaibullin 2, http://orcid.org/0000-0003-1886-0538
Svetlana N. Myakisheva 1,3, http://orcid.org/0000-0001-9702-3759
1 Novgorod State University of a name of Jaroslav Mudry, Veliky Novgorod, Russia
2 Semey State Medical University, Semey, Kazakhstan
1,3 Management of Federal service on supervision in sphere of protection of the rights of consumers and well-being of the person on Saint-Petersburg, St-Petersburg, Russia.
1. Аверьянов, А.В., Поливанова А.Э. Нейтрофильная эластаза и болезни органов дыхания // Пульмонология. 2006. №5. С.74-77.
2. Бабок, А.А. Изучение роли тканевых протеиназ и их ингибиторов в патогенезе патологии лёгких пылевой этиологии: Дис. … канд. мед. наук. – Москва, 1990
3. Гайцхоки В.С. Молекулярно-генетическая гетерогенность наследственных болезней // Вопросы медицинской химии. 1997. Т. 43. № 5. С. 290-299.
4. Дубровин С.М., Муромцев А.В., Новикова Л.И. α2-макроглобулин: современное состояние вопроса (обзор литературы) // Клиническая лабораторная диагностика. 2000. №6. С. 3-7.
5. Иващенко Т.Э., Сиделева О.Г., Петрова М.А., Гембицкая Т.Е., Орлов А.В., Баранов В.С. Генетические факторы предрасположенности к бронхиальной астме // Генетика. 2000. Т.36. № 9. С. 1.
6. Измеров Н.Ф., Дуева Л.А., Милишникова В.В. Иммунологические аспекты современных форм пневмокониозов // Медицина труда и промышленная экология. 2000. № 6. С. 1-5.
7. Измеров Н.Ф., Чучалин А.Г., Фишман Б.Б. Профессиональные заболевания органов дыхания. Национальное руководство. Под редакцией акад. РАН Н.Ф. Измерова, акад. РАН А.Г. Чучалина, научной редакции профессора Фишмана Б.Б. – М.: ГЭОТАР-МЕДИА, 2015. 792 с.
8. Кадурина Т.И. Наследственные коллагенопатии. – СПб.: Невский Диалект, 2000. – 271 с.
9. Коган Е.А., Корнев Б.М., Попова, Е.Н. и др. Межклеточные взаимодействия в морфогенезе инициальных повреждений и склероза при интерстициальных болезнях лёгких // Вестник Российской академии медицинских наук. 1995. № 5. С. 23-30.
10. Корнеленко Т.А., Свечникова И. Г. Регуляция цистеиновых протеиназ лизосом печени при стимуляции и депрессии макрофагов // Вестник Российской академии медицинских наук. 1998. № 10. С. 26-29.
11. Кубышкин, А.В. Протеолитические ферменты и их ингибиторы в развитии деструктивных процессов при заболеваниях лёгких // Советская медицина. 1984. № 9. С. 42-46.
12. Локшина Л.А., Соловьёва Н.И., Орехович В.Н. Роль лизосомальных протеиназ в деструкции ткани при физиологических и некоторых патологических состояниях // Структура и функции лизосом. М., 1986. С. 121-122.
13. Монахов, Н.К., Игнатьев, В.А., Шаловский, М.М. и др. Этиологическое значение наследственного дефицита α1-ингибитора протеиназ в формировании заболеваний органов дыхания // Терапевтический архив. 1989. № 3. С. 88-90.
14. Оглоблина О.Г. Роль протеиназ гранулоцитов и их ингибиторов в патогенезе неспецифических эндобронхитов // Вопросы медицинской химии. 1984. № 1. С. 3-10.
15. Орехович В.Н., Локшина Л.А., Елисеева Ю.Е., Павлихина Л.В. Роль протеолитических ферментов в регуляции физиологических процессов // Вестник АМН СССР. 1984. № 8. С. 3-11.
16. Петров Р.В. Иммунология. Москва. “Медицина”. 1987. 416 с.
17. Спицын В.А., Новорадовский А.Г., Спицына Н.Х., Парик Ю.Я. Полиморфизм α1-антитрипсина в популяциях Памира. Репродуктивная компенсация – возможный механизм поддержания генетического разнообразия популяций по генам Pi у человека // Генетика. 1989. №25. С. 2218-2224
18. Фёдоров Н.А., Овчарук Н.Н., Федотов А.В. Функциональное и клиническое значение фибронектина плазмы крови // Вестник АМН СССР. 1987. № 7. С. 53-60.
19. Чиненная О.В. Фено- и генотипические особенности протеиназно-ингибиторной системы у больных профессиональными заболеваниями органов дыхания. Дис….канд. мед. наук, Москва, 2003.
20. Baggiolini M., Shnider J., Bretz U. et al. Cellular mechanism of proteinase realease from inflammatory cells and the degradation of extra cellular proteins // Protein degradation Health and Diseases. Amsterdam, 1980. P.105-121
21. Bej A.K., Mahbubani M.H. et al. Critical Reviews in Biochemistry and Molecular Biology // Am. J. of Med. Gen. 1991. Vol. 26. N.4. P.321-334.
22. Beeh KM, Beier J, Kornmann O, Buhl R. Sputum matrix metalloproteinase-9, tissue inhibitor o metalloprotmease-1, and their molar ratio in patients with chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis and healthy subjects // Respir Med. 2003. Vol.97. P. 634-639.
23. Cardoso W.V, Sekhon H.S, Hyde D.M, Thurlbeck W.M. Collagen and elastin in human pulmonary emphysema // Am Rev Respir Dis. 1993. Vol. 147. P. 975-981.
24. D’Ardenne A.J., Gee M. Fibronectin in disease // J. Pathol. 1984. Vol. 142. P.235-251.
25. Dunn A.D. Cysteine proteinases from human thyroids and their actions on thyroglobulin // Endocrinology. 1988. Vol. 123. N. 2. P.1089-1097.
26. Finlay G.A., Russell K.J., McMahon K.J. et al. Elevated levels of matrix metalloproteinases in bronchoalveolar lavage fluid of emphysematous patients // Thorax 1997. Vol.52. P.502–506.
27. Gabrijeleic D., Gallwitzer R., Popovic T., Turk V. Proteolitic cleavage of human fibrinogen by cathepsin B //Biol. Chem. Hoppe-Seyler. 1988. Vol. 369. P. 287-292.
28. Gill S.E., Parks W.C. Metalloproteinases and their inhibitors: regulators of wound healing // Int J Biochem Cell Biol 2008. Vol. 40. N6-7. P. 1334-1347.
29. Henry MT, McMahon K, Mackarel AJ et al. Matrix metalloproteinases and tissue inhibitor of metalloproteinase-1 in sarcoidosis // Eur Respir J. 2000. Vol. 20(5). P.1220-1227.
30. Imai K, Dalai SS, Chen ES et al. Human collagenase (matrix metalloproteinase-1) expression in the lungs of patients with emphysema // Am J Respir Crit Care Med. 2001. Vol. 163. P. 786-791.
31. Janoff A., White R., Carp U. et al. Lung injury induced by leukocytic proteases // Amer. J. Path. 1979. Vol. 97. P. 111-136
32. Klein G., Vellenga E., Fraaije M.W., Kamps W.A., de Bont E.S. The possible role of matrix metalloproteinase (MMP)-2 and MMP-9 in cancer, e.g. acute leukemia. // Crit Rev Oncol Hematol. 2004. Vol.50. P.87–100
33. Lanone S., Zheng T., Zhu Z. et al. Overlapping and enzyme-specific contributions of matrix metalloproteinases-9 and -12 in IL-13-induced inflammation and remodeling // J Clin Invest 2002. Vol. 110. P. 463-474.
34. Mornex J.F., Crystal R. Protease-antiprotease imbalance in lung diseases // Marker Proteins Inflammation. New York, 1989. P. 261-270.
35. Morrison H.M., Afford S.C., Stockley R.A. Inhibitory capacity of α1-antitrypsin in lung secretions: Variability and the effect of drugs // Thorax. 1984. Vol. 39. N. 7. P. 510-516.;
36. Morrison H.M., Crystal R. Protease-antiprotease theory of emphysema: Time for reappraisal // Clin. Sci. 1987. Vol. 72. N.2. P. 151-158.
37. Nagase H., Woessner J.F. Matrix metalloproteinases // J. Biol. Chem. 1999. Vol. 274. P. 21491–21494.
38. Ooyama T., Sakamato H. Elastase in prevention of arterial ageing and the treatment of atherosclerosis // Ciba Foundation Sympos. 1995. Vol. 192. P.307-320.
39. Sadallah S., Hees C., Miot S. et al. Elastase and metаlloproteinase activities regulate soluble complement receptor 1 relase // Eur. J. Immunol. 1999. Vol. 29. P. 3754-3761
40. Stockley R. Proteolytic enzymes, their inhibitors and lung diseases // Clin. Sci. 1983. Vol. 64. P. 119-126.
41. Stone P., Calore J., Shider G. et al. Role of α2-macroglobulin-elastase complexes in the pathogenesis of elastase-induced emphysema in hamsters // J. Clin. Invest. 1982. Vol. 69. P. 920-931.
42. Tetley T.D. New perspectives on basic mechanisms in lung disease. 6. Proteinase imbalance: its role in lung disease. // Thorax 1993. Vol.48 (5). P. 560-565.
References:
1. Аver'yanov А.V., Polivanova А.Eн. Neitrofil'naya ehlastaza i bolezni organov dykhaniya [Neutrophil elastase and respiratory diseases]. Pul'monologiya [Pulmonology]. 2006. 5. pp. 74-77 [in Russian].
2. Babok А.А. Izuchenie roli tkanevykh proteinaz i ikh ingibitorov v patogeneze patologii lyogkikh pylevoj ehtiologii [Studying the role of tissue proteases and their inhibitors in the pathogenesis of lung disease etiology dust]: Dis. … kand. med. nauk. Moskva, 1990, 24p.
3. Gaitskhoki V.S. Molekulyarno-geneticheskaya geterogennost' nasledstvennykh boleznei Molecular-genetic heterogeneity of hereditary illnesses]. Voprosy meditsinskoi khimii [Problems of Medical Chemistry]. 1997, T.43, 5. pp. 290-299 [in Russian].
4. Dubrovin S.M., Muromtsev А.V., Novikova L.I. α2-makroglobulin: sovremennoe sostoyanie voprosa (obzor literatury) [α2-macroglobulin: state of the art (review)]. Klinicheskaya laboratornaya diagnostika [Clinical Laboratory Diagnostics]. 2000, 6, pp. 3-7 [in Russian].
5. Ivashhenko T.E., Sideleva O.G., Petrova M.А., Gembitskaya T.E., Orlov А.V., Baranov V.S. Geneticheskie faktory predraspolozhennosti k bronkhial'noj astme [Genetic factors predisposing to asthma]. Genetika [Russian Journal of Genetics]. 2000, T.36, 9. pp. 1 [in Russian].
6. Izmerov N.F., Dueva L.А., Milishnikova V.V. Immunologicheskie aspekty sovremennykh form pnevmokoniozov Immunological aspects of contemporary forms of pneumoconiosis]. Meditsina truda i promyshlennaya ehkologiya [Occupational Medicine and Industrial Ecology]. 2000, 6. pp. 1-5 [in Russian].
7. Izmerov N.F., Chuchalin А.G., Fishmana B.B. Professional'nye zabolevaniya organov dykhaniya [Occupational diseases of the respiratory system]. Natsional'noe rukovodstvo. Pod redaktsiej akad. RАN N.F. Izmerova, akad. RАN А.G. Chuchalina, nauchnoj redaktsii professora Fishmana B.B. [National leadership. Edited by Acad. N.F.Izmerov RAS, Acad. RAS A.G. Chuchalin, scientific edition by Prof. Fishman BB]. M.: GEOTАR-MEDIА, 2015. 792 p.
8. Kadurina, T.I. Nasledstvennye kollagenopatii [Hereditary kollagenopatii]. SPb.: Nevskij Dialekt, 2000. 271 p.
9. Kogan, E.А., Kornev, B.M., Popova, E.N. i dr. Mezhkletochnye vzaimodejstviya v morfogeneze initsial'nykh povrezhdenij i skleroza pri interstitsial'nykh boleznyakh lyogkikh [Cellular interactions in morphogenesis of initial damage and sclerosis with interstitial lung disease]. Vestnik Rossiiskoi akademii medetsinskikh nauk [Annals of the Russian academy of medical sciences]. 1995, 5, pp. 23-30 [in Russian].
10. Kornelenko T.А., Svechnikova I. G. Regulyatsiya tsisteinovykh proteinaz lizosom pecheni pri stimulyatsii i depressii makrofagov [Regulation of lysosomal cysteine proteases liver when stimulated macrophages and depression]. Vestnik Rossiiskoi akademii meditsinskikh nauk [Annals of the Russian academy of medical sciences]. 1998, 10, pp. 26-29 [in Russian].
11. Kubyshkin А.V. Proteoliticheskie fermenty i ikh ingibitory v razvitii destruktivnykh protsessov pri zabolevaniyakh lyogkikh [The proteolytic enzymes and their inhibitors in the development of destructive processes in diseases of the lungs]. Sovetskaya meditsina [Soviet medicine]. 1984, 9. pp. 42-46 [in Russian].
12. Lokshina L.А., Solov'yova N.I., Orekhovich, V.N. Rol' lizosomal'nykh proteinaz v destruktsii tkani pri fiziologicheskikh i nekotorykh patologicheskikh sostoyaniyakh [The role of lysosomal proteases in tissue degradation under physiological and pathological conditions of some]. Struktura i funktsii lizosom [Structure and function of lysosomes]. M., 1986, pp. 121-122.
13. Monakhov N.K., Ignat'ev V.А., SHalovskij M.M. i dr. Etiologicheskoe znachenie nasledstvennogo defitsita α1-ingibitora proteinaz v formirovanii zabolevanij orga-nov dykhaniya [Etiological significance of hereditary α1-proteinase inhibitor deficiency in the formation of respiratory diseases]. Terapevticheskii arkhiv [Therapeutic archive]. 1989, 3. pp. 88-90 [in Russian].
14. Ogloblina O.G. Rol' proteinaz granulotsitov i ikh ingibitorov v patogeneze ne-spetsificheskikh ehndobronkhitov [The role of proteinases and their inhibitors granulocytes in the pathogenesis of nonspecific endobronchitis]. Voprosy meditsinskoi khimii [Problems of Medical Chemistry]. 1984. № 1. pp. 3-10 [in Russian].
15. Orekhovich V.N., Lokshina L.А., Eliseeva YU.E., Pavlikhina, L.V., Rol' proteoliticheskikh fermentov v regulyatsii fiziologicheskikh protsessov [The role of proteolytic enzymes in the regulation of physiological processes]. Vestnik АMN SSSR [Journal of the Academy of Medical Sciences of the USSR]. 1984, 8, pp. 3-11 [in Russian].
16. Petrov R.V. Immunologiya [Immunology]. Moskva, “Meditsina”, 1987. 416p.
17. Spitsyn V.А., Novoradovskii А.G., Spitsyna N. KH., Parik YU.YA. Polimorfizm α1-antitripsina v populyatsiyakh Pamira. Reproduktivnaya kompensatsiya – vozmozhnyi mekhanizm podderzhaniya geneticheskogo raznoobraziya populyatsii po genam Pi u cheloveka [Polymorphism of α1-antitrypsin in the populations of the Pamirs. Reproductive compensation – a possible mechanism for the maintenance of genetic diversity for Pi genes in human populations. Genetika [Russian Journal of Genetics]. 1989, 25. pp. 2218-2224 [in Russian].
18. Fyodorov N.А., Ovcharuk N.N., Fedotov А.V. Funktsional'noe i klinicheskoe znachenie fibronektina plazmy krovi [Functional and clinical significance of fibronectin plasma]. Vestnik АMN SSSR [Journal of the Academy of Medical Sciences of the USSR]. 1987, 7. pp. 53-60 [in Russian].
19. Chinennaya O.V. Feno- i genotipicheskie osobennosti proteinazno-ingibitornoj sistemy u bol'nykh professional'nymi zabolevaniyami organov dykhaniya [Phenotypic and genotypic features of proteinase inhibitors in patients with occupational diseases of the respiratory system]. Dis….kand. med. nauk, Moskva, 2003, 24p.
20. Baggiolini M., Shnider J., Bretz U. et al. Cellular mechanism of proteinase realease from inflammatory cells and the degradation of extra cellular proteins. Protein degradation Health and Diseases. Amsterdam. 1980. pp. 105-121
21. Bej A.K., Mahbubani M.H. et al. Critical Reviews in Biochemistry and Molecular Biology. Am. J. of Med. Gen. 1991. Vol. 26. N. 4. pp. 321-334.
22. Beeh K.M., Beier J., Kornmann O., Buhl R. Sputum matrix metalloproteinase-9, tissue inhibitor o metalloprotmease-1, and their molar ratio in patients with chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis and healthy subjects. Respir Med. 2003, Vol.97, pp.634–639.
23. Cardoso W.V., Sekhon H.S., Hyde D.M., Thurlbeck W.M. Collagen and elastin in human pulmonary emphysema // Am Rev Respir Dis. 1993. Vol. 147. pp. 975–981.
24. D’Ardenne A.J., Gee M. Fibronectin in disease. J. Pathol. 1984. Vol. 142. pp. 235-251.
25. Dunn A.D. Cysteine proteinases from human thyroids and their actions on thyroglobulin. Endocrinology. 1988, Vol. 123. N. 2. pp. 1089-1097.
26. Finlay G.A., Russell K.J., McMahon K.J. et al. Elevated levels of matrix metalloproteinases in bronchoalveolar lavage fluid of emphysematous patients. Thorax,1997. Vol.52. pp. 502–506.
27. Gabrijeleic D., Gallwitzer R., Popovic T., Turk V. Proteolitic cleavage of human fibrinogen by cathepsin B. Biol. Chem. Hoppe-Seyler. 1988. Vol. 369. pp. 287-292.
28. Gill S.E., Parks W.C. Metalloproteinases and their inhibitors: regulators of wound healing. Int J Biochem Cell Biol, 2008. Vol. 40. N6-7. pp. 1334-1347.
29. Henry M.T., McMahon K., Mackarel A.J. et al. Matrix metalloproteinases and tissue inhibitor of metalloproteinase-1 in sarcoidosis // Eur Respir J. 2000, Vol. 20(5). pp. 1220-1227.
30. Imai K., Dalai S.S., Chen E.S. et al. Human collagenase (matrix metalloproteinase-1) expression in the lungs of patients with emphysema. Am. J Respir Crit Care Med. 2001, Vol. 163, pp. 786-791.
31. Janoff A., White R., Carp U. et al. Lung injury induced by leukocytic proteases. Amer. J. Path. 1979, Vol. 97, pp.111-136
32. Klein G., Vellenga E., Fraaije M.W., Kamps W.A., de Bont E.S. The possible role of matrix metalloproteinase (MMP)-2 and MMP-9 in cancer, e.g. acute leukemia. Crit Rev Oncol Hematol. 2004. Vol.50. pp.87–100
33. Lanone S., Zheng T., Zhu Z. et al. Overlapping and enzyme-specific contributions of matrix metalloproteinases-9 and -12 in IL-13-induced inflammation and remodeling. J Clin Invest, 2002, Vol. 110, pp. 463-474.
34. Mornex J.F., Crystal R. Protease-antiprotease imbalance in lung diseases. Marker Proteins Inflammation. New York, 1989. pp.261-270.
35. Morrison H.M., Afford S.C., Stockley R.A. Inhibitory capacity of α1-antitrypsin in lung secretions: Variability and the effect of drugs. Thorax. 1984. Vol. 39. N. 7. pp.510-516.;
36. Morrison H.M., Crystal R. Protease-antiprotease theory of emphysema: Time for reappraisal. Clin. Sci. 1987. Vol. 72. N.2. pp. 151-158.
37. Nagase H., Woessner J.F. Matrix metalloproteinases. J. Biol. Chem. 1999, Vol. 274, pp. 21491–21494.
38. Ooyama T., Sakamato H. Elastase in prevention of arterial ageing and the treatment of atherosclerosis. Ciba Foundation Sympos. 1995, Vol. 192. pp. 307-320.
39. Sadallah S., Hees C., Miot S. et al. Elastase and metаlloproteinase activities regulate soluble complement receptor 1 relase. Eur. J. Immunol. 1999, Vol. 29. pp. 3754-3761
40. Stockley R. Proteolytic enzymes, their inhibitors and lung diseases. Clin. Sci. 1983. Vol. 64. pp. 119-126.
41. Stone P., Calore J., Shider G. et al. Role of α2-macroglobulin-elastase complexes in the pathogenesis of elastase-induced emphysema in hamsters. J. Clin. Invest. 1982, Vol. 69, pp. 920-931.
42. Tetley T.D. New perspectives on basic mechanisms in lung disease. 6. Proteinase imbalance: its role in lung disease. Thorax, 1993. Vol.48 (5). pp. 560-565.
Bibliography link
Фишман Б.Б., Хайбуллин Т.Н., Мякишева С.Н. Особенности генетического полиморфизма генных локусов и морфофизиологических признаков при пылевой болезни легких / / Наука и Здравоохранение. 2016. №2. С. 93-105.
Fishman B.B., Khaibullin T.N., Myakisheva S.N. The features genetic polymorphism of gene loci and morpho-physiological traits in dust pulmonary disease. Nauka i Zdravookhranenie [Science & Healthcare]. 2016, 2, pp. 93-105.
Фишман Б.Б., Хайбуллин Т.Н., Мякишева С.Н. Өкпенің шаңды ауыруы кезіндегі морфофизиологиялық белгілері мен генді локустардың генетикалық полиморфизмінің ерекшеліктері / / Ғылым және Денсаулық сақтау. 2016. №2. Б. 93-105.