Виявлення схильності здорового організму до мультифакторіальних захворювань

Abstract

Можливості нових технологій, а саме молекулярної діагностики, визначати схильність здорового організму до захворювань на молекулярно-генетичному рівні різко посилили інтерес до генетики мультифактеріальньїх захворювань. У їх розвитку мають роль не тільки генетичні фактори, а й фактори середовища. Виділяються «головні гени схильності» до мультифакторіальних захворювань і генетичний фон, який може змінювати експресію головних генів. В основі схильності до даної групи захворювань лежить ве¬лике генетичне різноманіття (генетичний поліморфізм) популяцій людини, зокрема за конституціональним типом; Возможности новых технологий, а именно молекулярной диагностики, определять склонность здорового организма к болезням на молекулярно-генетическом уровне резко усилили интерес к генети¬ке мультифакториальных заболеваний. В их развитии играют роль не только генетические факторы, но и факторы среды. Выделяются «главные гены предрасположенности» к мультифакториальным заболеваниям и генетический фон, который может изменять экспрессию главных генов. В основе предрасположенности к данной группе заболеваний лежит большое генетическое разнообразие (генетический полиморфизм) популяций человека, в частности за конституциональным типом; The possibilities of new technologies such as molecular diagnostics, to determine the susceptibility of the organism to common diseases at the molecular genetic level dramatically strengthen interest in genetics of multifactorial diseases. Multifactorial diseases are the group of diseases which are a part of not only genetic factors but also environmental factors. There are the “major susceptibility genes” to multifactorial diseases and genetic background that can change the expression of major genes. The basis of susceptibility to this group of diseases is great genetic diversity (genetic polymorphism) human populations, particularly of constitutional type. The charter of the WHO health is defined as “a state of complete physical, mental and social well-being and not merely the absence of disease or physical defects. ” However, a concept of “health” of an individual is not exactly determined, which is associated with a large range of individual fluctuations, the most important indicators of organism and a variety of factors that affect health. Resistance of the organism and tissue is one of the most important integrated functional characteristics of body and is a measure of its resistance to various adverse effects. The biological nature of human is characterized by three main phenomena: fairly stable structure of the body; physiology of vital functions and metabolism; consciousness as a psychological phenomenon. The body constitution is the fundamental characteristic of the entire organism, which most fully embodies the idea of qualitative unity of biological organization. The principle of the integrity of the body was of particular importance in the current development of physique, which is characterized by multidimensionality, complexity, intersystem correlation study and widespread use of dynamic methods of observation. The body constitution is today one of the integral indicators of human health and claims to methodological basis for further prophylactics development. However, the study of systemic reactions as a whole to the effect of environmental factors, as well as evaluating the overall mechanisms of resistance to specific pathologies are crucial in dealing with the physiological position of socially important issues of human life. The essence of the doctrine of the types of body constitutions is that each type has its inherent characteristics not only initially selected anthropometric indices, but also the structure of the body, the nervous, endocrine and immune systems, structure and function of internal organs. During the growth and development the people respond to changing of environmental conditions in different ways. In general, this reaction is the interaction of two opposing phenomena: resistance of the organism and desire to adapt to them - reactivity of the organism. It is the ability to adequately respond to environmental changes during the growth and development of the body and it is called the constitution of body in the most general sense. It is believed that multifactorial diseases have tropism to a particular constitutional type. In pathological processes genotype reaction rate is largely determined outside of clinical variability, polymorphism and pathomorphosis manifestations of human diseases. This response to phenotypic level integrally can register on the macro-morphological subsystem of the overall constitution of somatotype. Human health is largely determined by the level of its functionality. The concept of individual standards as an optimal condition of the human is reasonable. This concept is closely related to the problem of typology of body. The feature of this approach is focusing on specific morpho-functional system or determination of certain mechanisms in the regulation of function. It does not allow to evaluate the organism as a whole, although this question remains as a top issue as in medicine and biology.