The purpose of this paper is to study the redox status and biochemical parameters of T341P desminopathy in a heterozygous state. Most
of the studied indicators of oxidative stress increase when approaching the middle course of T341P desminopathy. In particular, malondialdehyde and 8-OH-deoxyguanosine increase by 1.2 and 2 times, respectively, and the content of glutathione and coenzyme Q10 increase
by 1.9 times. An increase in the level of uric acid in the blood of the proband was established up to 1.5 times, exceeding the upper reference
limits by 10 - 12%. With the progression of desminopathy, decreased functional activity of the kidneys occurs with a considerable reduction
in glomerular filtration. Five days before the death of the probandÂ’s father suffering from desminopathy, serious changes were observed in
nitrogen metabolism. The data obtained complements the picture of pathological mechanisms impacting desminopathy.
Key words: Desminopathy, Myoglobin, Nitrogen metabolism, Redox status, Uric acid.
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