Dynamics of Immune Status in Myofibrillar Myopathy with the T341P DES Mutation

Abstract

Viacheslav Yurievich Pauls.

Introduction. Desminopathy is one of the varieties of myofibrillar myopathy that is caused by a mutation in the DES gene. To date, there is a lack of evidence regarding changes in immune status during the natural course of the disease.
The aim of the study was to investigate the dynamics of immune status in myofibrillar myopathy with the T341P DES mutation in the heterozygous state.
Materials and methods. The study is based on a long-term observation of a proband with a reliable diagnosis of hereditary desminopathy after the middle of the disease course was reached. An analysis of medical records of the proband’s desminopathic father was also carried out. Extended immunological studies were performed by cytometry, enzyme-linked immunosorbent assay, immunoturbidimetry, chemiluminescence immunoassay, and spectrophotometry.
Results. An evident immunosuppression was observed with the progression of the disease. This manifested in the deterioration of the vast majority of immunity parameters, drop of functional (phagocytic, metabolic, oxidative) activity of monocytes and granulocytes, as well as in the increase of the level of IL-6 and IL-8 proinflammatory interleukins. It is found that IgE, IgM, and IgG immunoglobulin levels dropped by factors of 4.4, 3, and 1.6, respectively, but the IgA level increased by a factor of 1.8. A prolonged inflammatory response to skin damage, a reduction in healing rates of affected areas, and incomplete wound healing were detected.
Conclusions. The presented data may potentially be used for assessing the disease pathogenesis and for designing pharmaceutical intervention strategies.