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Many genetic diseases that are responsible for muscular disorders have been described to date. Gene replacement therapy is a state-of-the-art strategy used to treat such diseases. In this approach, the functional copy of a gene is delivered to the affected tissues using viral vectors. There is an urgent need for the design of short, regulatory sequences that would drive a high and robust expression of a therapeutic transgene in skeletal muscles, the diaphragm, and the heart, while exhibiting limited activity in non-target tissues. This review focuses on the development and improvement of muscle-specific promoters based on skeletal muscle α-actin, muscle creatine kinase, and desmin genes, as well as other genes expressed in muscles. The current approaches used to engineer synthetic muscle-specific promoters are described. Other elements of the viral vectors that contribute to tissue-specific expression are also discussed. A special feature of this review is the presence of up-to-date information on the clinical and preclinical trials of gene therapy drug candidates that utilize muscle-specific promoters., (Copyright ® 2021 National Research University Higher School of Economics.)

Genetic composition for secaline genes was studied in four short stem rye populations (Bolgarskaya korotkostebelnaya, Gnom 1, Gnom 2, and Gnom 3) using the methods of classical hybridological analysis and population genetics. Eight, three, and four alleles of the genes Sec-3, Sec-2, Sec-1 correspondingly have been revealed in the studied populations. The frequencies of the specific alleles in each population were determined. The allele transmission to the next generation is restricted through the linkage of the secaline genes with the genes of self-incompatibility, S1 and Z, located on the same chromosomes as the secaline genes.

Comparing the results of genetic analysis of oat varieties with the method of diallel analysis of F1 hybrids and with the joint scaling test the spheres of optimal application of both methods were determined. Quantitative estimation of genetic parameters forming the phenotypic averages in scaling test develops the necessary base for involvement of marker genes for qualitative characters in search of QTLs controlling the traits with continuous variation. The crosses being the most suitable for further investigation with the aim to identify and to allocate the main genes of quantitative traits are indicated.

Effects of coronary blood flow restoration on dynamics of myocardial perfusion and function were studied in 50 patients with acute myocardial infarction during 6-month follow-up. Gated SPECT with 99mTc-MIBI (G-SPECT) was performed before onset of reperfusion procedures, in 24 hours, 10 days, 1 and 6 months. In patients with successful reperfusion (n=36) perfusion defect (PD) size decreased by 6.78+/-0.97% (p<0.001) and its severity by 221.3+/-85 std (p<0.001) in 24 hours. In 10 days PD size decreased by 3.9+/-0.88% (r<0.05) and severity by 149+/-39 std (p<0.05), whereas in 1 month PD size decreased by 2,18+/-1,4% (p<0.05), PD severity by 146.3+/-67 std (p<0.05). Successful reperfusion was associated with improvement of contractility: left ventricular ejection fraction increased by 3% (p<0.05) on day 10 of the disease. In patients with failed reperfusion PD size and severity decreased in 10 days by 4.8+/-4.2%, p<0.05, and 276+/-75 std, p<0.05, respectively, in 6 months PD size decreased by 3.1+/-0.9%, p<0.05, left ventricular ejection fraction did not change during follow-up. We conclude that successful reperfusion therapy promotes restoration of myocardial perfusion and improvement of its contractility.

Genetic analysis of seven oat varieties for eight traits which are the yield components was performed when studying the varieties and the F1 hybrids from their diallel crosses. Involvement of epistatic genes in genetic control of all the traits excluding the panicle density was established. By analysing the diallel tables with excluded data from the varieties with epistatic genes, it was revealed that hyperdominance is inherent to genetic control of the majority of traits studied. The dominant gene action exceeds the additive gene action. The genes "u" increasing the phenotypic displaying of the trait are always dominant and their frequency in the variety set under consideration is higher than the frequency of the genes "v" for all traits studied.