Отличительные особенности регуляторной функции тропомиозина при различных вариантах наследственной миопатии

Abstract

Congenital myopathies are a group of clinically and genetically heterogeneous diseases, which are united by primary lesions of skeletal muscles and are characterized by progressive muscle weakness and hypotension, as well as morphological changes in muscle tissue. The range of variants of congenital myopathies is quite wide, and the signs are heterogeneous, therefore, the diagnosis is often difficult. Until now, there is no effective therapy for myopathies - only symptomatic treatment is used to improve metabolism and blood microcirculation in the muscles. At the same time, many of these diseases significantly reduce the quality and duration of human life. The accumulation of scientific knowledge necessary for the early diagnosis of congenital myopathies of human and for the development of approaches to effective treatment of diseases of muscle tissue dysfunction is one of the urgent tasks of biology and medicine. Most recently, a series of works has appeared in which an attempt is made to characterize the molecular mechanisms of the onset and development of a number of myopathies caused by gene mutations. It seems extremely important to analyze the published data and, on the basis of this, highlight critical changes in the conformational state of muscle proteins that can be used as tests for the differential diagnosis of myopathies. This review article is devoted to the analysis and generalization of literature and original data obtained by the method of polarized microfluorimetry on the molecular mechanisms of muscle contraction regulation by mutant tropomyosins appearing in muscle tissue in various human musculoskeletal diseases in order to identify molecular targets for the therapeutic effects.