scholarly journals Candidate genes associated with athletes' skeletal muscle functions regulation

2021 ◽  
Vol 1 (2) ◽  
pp. 83-94
Author(s):  
O. V. Balberova ◽  
E. V. Bykov ◽  
G. V. Medvedev
Keyword(s):  
Candidate Genes ◽  
Skeletal Muscles ◽  
Sports Injuries ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Genetic Characteristics ◽  
Endurance Strength ◽  
Personalized Approach ◽  
And Function ◽  
Genetically Determined

It is generally recognized that an elite athlete's status is a multifactorial phenotype depending on many environmental and genetic factors. Variations in the sequence of nucleotides in deoxyribonucleic acid (DNA), in particular, single-nucleotide variants (SNVs) act as key internal factors associated with achieving high results in sports. The determination of specific individuals' genetic characteristics allows us to identify athletes who have the greatest genetically determined potential for certain sports that require speed, strength or endurance manifestation. Of course, peculiarities of the structure and function of skeletal muscles are among the most important characteristics in sports results context, in sports associated with the development of power / strength or endurance phenotypes. The composition and function of skeletal muscles are controlled by many different genes, and their SNVs can serve as strength or endurance athletes' status biomarkers. (1) Background: to conduct a thematic review of candidate genes studies and their single-nucleotide variants (SNVs) associated with the functioning of skeletal muscles in athletes. (2) Methods: A search for articles for the period from 2010 to 2020 was conducted in the databases SCOPUS, Web of Science, Google Calendar, Clinical keys, PubMed, e-LIBRARY using keywords and their combinations; (3) Conclusions: The identification of genetic biomarkers associated with muscular system regulation can help neurologists, sports doctors and coaches in developing personalized strategies for selecting children, adolescents and young adults for endurance, strength and speed sports (for example, running short, medium or long distances). Such a personalized approach will increase sports performance and reduce the risk of sports injuries of the musculoskeletal system.

scholarly journals Candidate Genes of Regulation of Skeletal Muscle Energy Metabolism in Athletes

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1682
Author(s):  
Olga V. Balberova ◽  
Evgeny V. Bykov ◽  
German V. Medvedev ◽  
Margarita A. Zhogina ◽  
Kirill V. Petrov ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Energy Metabolism ◽  
Candidate Genes ◽  
Sports Performance ◽  
Single Nucleotide Variants ◽  
Long Distance ◽  
Single Nucleotide ◽  
Endurance Strength ◽  
Muscle Energy ◽  
Muscle Energy Metabolism

All biological processes associated with high sports performance, including energy metabolism, are influenced by genetics. DNA sequence variations in such genes, single nucleotide variants (SNVs), could confer genetic advantages that can be exploited to achieve optimal athletic performance. Ignorance of these features can create genetic “barriers” that prevent professional athletes from pursuing a career in sports. Predictive Genomic DNA Profiling reveals single nucleotide variations (SNV) that may be associated with better suitability for endurance, strength and speed sports. (1) Background: To conduct a research on candidate genes associated with regulation of skeletal muscle energy metabolism among athletes. (2) Methods: We have searched for articles in SCOPUS, Web of Science, Google Scholar, Clinical keys, PubMed, e-LIBRARY databases for the period of 2010–2020 using keywords and keywords combinations; (4) Conclusions: Identification of genetic markers associated with the regulation of energy metabolism in skeletal muscles can help sports physicians and coaches develop personalized strategies for selecting children, teenagers and young adults for endurance, strength and speed sports (such as jogging, middle or long distance runs). However, the multifactorial aspect of sport performances, including impact of genetics, epigenetics, environment (training and etc.), is important for personalized strategies for selecting of athletes. This approach could improve sports performance and reduce the risk of sports injuries to the musculoskeletal system.

scholarly journals Candidate genes and single-nucleotide gene variants associated with muscle and tendon injuries in cyclic sports athletes

2021 ◽  
Vol 1 (1) ◽  
pp. 64-72
Author(s):  
O. V. Balberova
Keyword(s):  
Candidate Genes ◽  
Depressive Disorders ◽  
Sports Injuries ◽  
Tendon Injury ◽  
Tendon Injuries ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Col1a1 Gene ◽  
Complex Interactions ◽  
Gdf5 Gene

Sports injuries prevention is one of the key issues of the training process and reducing the risk of developing anxiety and depressive disorders in professional athletes. One of peculiarities of sports injuries is the loss of the ability to train in view of the tendon-ligamentous apparatus integrity, joints, muscles or bones violation. In cyclic sports, the most common are injuries to the ankle joint, injuries to muscles and tendons, and sprains. Injuries to ligaments and tendons are the result of multifactorial problems, including the discrepancy between training effects and the genetically determined capabilities of the athlete's body. Sports injuries consequences are determined by complex interactions between the athlete's genotype and environmental factors, in particular training influences. (1) Background: to review scientific articles on the problem of research on candidate genes and single-nucleotide variants (SNVs) of genes associated with muscle, tendon, and ligament injuries in cyclic sports athletes. (2) Methods: a search of articles for the period from 2008 to 2020 was conducted in the databases e-LIBRARY, SCOPUS, Web of Science, Google Scholar, Clinical keys, PubMed using the keywords: personalized medicine, genetics, candidate genes, single-nucleotide variant, polymorphism, muscle, tendon, injury, athlete. (3) Results: Studies have shown that muscle and tendon injuries in cyclical sports athletes are associated with SNV rs1800012, rs1107946 of the COL1A1 gene, SNV rs12722 of the COL5A1 gene, SNV rs679620 of the MMR3 gene, SNV rs2289360 of the ELN gene, SNV rs143383 of the GDF5 gene. The most studied polymorphisms are rs1800012, rs1107946 of the COL1A1 gene, rs12722 of the COL5A1 gene, and rs143383 of the GDF5 gene. The variable results of associative genetic studies and genome-wide studies are most likely due to the racial and ethnic heterogeneity of the samples and differences in the study design. (4) Conclusions: Identification of genetic markers associated with injuries and diseases of the musculoskeletal system, ligamentous apparatus, and the ability of tissue to regenerate can help sports doctors and coaches develop personalized strategies to prevent or reduce muscles, joints, and ligaments diseases in athletes. The translation of these research results into the training and treatment process is important for improving cyclic sports athletes' performance, reducing their professional mala-daptation and anxiety and depressive disorders development risk.

scholarly journals Candidate genes involved in the development of antipsychotic-induced tardive dyskinesia in patients with schizophrenia

2020 ◽  
Vol 10 (3) ◽  
pp. 10-26
Author(s):  
E. E. Vaiman ◽  
N. A. Shnayder ◽  
N. G. Neznanov ◽  
R. F. Nasyrova
Keyword(s):  
Tardive Dyskinesia ◽  
Candidate Genes ◽  
Side Reaction ◽  
Single Nucleotide Variants ◽  
Antipsychotic Therapy ◽  
Drug Induced ◽  
Single Nucleotide ◽  
Genetic Characteristics ◽  
Genes Encoding ◽  
Undesirable Side Reaction

Introduction. Drug-induced dyskinesia is an iatrogenic undesirable side reaction from the extrapyramidal system that occurs during the administration of drugs, most often antipsychotics in patients with schizophrenia. At the end of the 20 th century, studies were conducted on the search for candidate genes and the carriage of single nucleotide variants of antipsychotics-induced tardive dyskinesia. Purpose of the study – to analyze research results reflecting candidate genes and their single nucleotide variants associated with antipsychotic-induced tardive dyskinesia. Materials and methods. We searched for full-text publications in Russian and English in the eLIBRARY, PubMed, Web of Science, Springer databases using keywords (tardive dyskinesia, drug-induced tardive dyskinesia, antipsychotics, antipsychotics, typical antipsychotics, atypical antipsychotics, genes, polymorphisms) and combined searches for words over the past decade. Results. The lecture discusses candidate genes encoding proteins/enzymes involved in the pharmacodynamics and pharmacokinetics of antipsychotics Conclusion. Timely identification of individual genetic characteristics of the patient can contribute to the development of diagnostic test systems and in the future selection of the safest and most effective antipsychotic therapy.

scholarly journals Mechanism and Functions of Identified miRNAs in Poultry Skeletal Muscle Development – A Review

2019 ◽  
Vol 19 (4) ◽  
pp. 887-904
Author(s):  
Asiamah Amponsah Collins ◽  
Kun Zou ◽  
Zhang Li ◽  
Su Ying
Keyword(s):  
Skeletal Muscle ◽  
Candidate Genes ◽  
Skeletal Muscles ◽  
Muscle Development ◽  
Muscle Growth ◽  
Skeletal Muscle Development ◽  
Single Nucleotide ◽  
Complex Processes ◽  
Muscle Formation ◽  
Gene Regulatory

AbstractDevelopment of the skeletal muscle goes through several complex processes regulated by numerous genetic factors. Although much efforts have been made to understand the mechanisms involved in increased muscle yield, little work is done about the miRNAs and candidate genes that are involved in the skeletal muscle development in poultry. Comprehensive research of candidate genes and single nucleotide related to poultry muscle growth is yet to be experimentally unraveled. However, over a few periods, studies in miRNA have disclosed that they actively participate in muscle formation, differentiation, and determination in poultry. Specifically, miR-1, miR-133, and miR-206 influence tissue development, and they are highly expressed in the skeletal muscles. Candidate genes such as CEBPB, MUSTN1, MSTN, IGF1, FOXO3, mTOR, and NFKB1, have also been identified to express in the poultry skeletal muscles development. However, further researches, analysis, and comprehensive studies should be made on the various miRNAs and gene regulatory factors that influence the skeletal muscle development in poultry. The objective of this review is to summarize recent knowledge in miRNAs and their mode of action as well as transcription and candidate genes identified to regulate poultry skeletal muscle development.

PERSONALIZED APPROACH TO THE USE OF MACROLIDES IN THE TREATMENT OF COMPLICATED FORMS OF ACUTE BACTERIAL RHINOSINUSITIS

2019 ◽  
Vol 25 (3) ◽  
pp. 60-72
Author(s):  
A.P. Smirnov ◽  
◽  
P.A. Shamkina ◽  
A.A. Krivopalov ◽  
Yu.K. Yanov ◽  
...  
Keyword(s):  
Protein Function ◽  
English Language ◽  
Nucleotide Polymorphism ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Homozygous Genotype ◽  
Major Allele ◽  
Acute Bacterial Rhinosinusitis ◽  
Personalized Approach ◽  
Genetically Determined

The purpose was to assess the possibilities of applying a personalized approach to the appointment of macrolides in acute bacterial rhinosinusitis, depending on the carrier of single-nucleotide polymorphism genes. Materials and methods. An analysis of Russian and English-language publications was conducted with a search depth of 30 years. Results. The main enzymes involved in macrolide pharmacokinetics are P-gp, OATP1B1, OATP1B3, CYP3A4, MRP2. P-gp activity is higher in carriers of the homozygous genotype in the major allele C (3435CC, 48.33%) and the heterozygous genotype (3435CT, 45.90%) of the SNPs rs1045642, whereas the lowest activity was detected in the carriers of the homozygote genotype in the minor allele T (3435 TT, 31.62%), P = 0.02. SNPS 521 T> C (rs4149056) in the SLCO1B1 gene, encoding because of the need for OATP1B1*5, associated with changes in the activity of the protein that carries and erythromycin metabolizing, respectively, in homozygous carriers of the major T allele (P = 0.0072). The activity of the 3A4 isoenzyme in the liver in homozygous carriers of negative T (CC) alleles was 1.7 and 2.5 times higher than in heterozygous (ST) and homozygous (TT) carriers of the minor T allele (rs35599367). The homozygous carriage of the G major allele (rs717620) is associated with a reduced protein function, the homozygous carriage of the minor A allele is associated with an increase in the activity of the MRP2 protein. Conclusion. Genetically determined differences in the pharmacokinetics and pharmacodynamics of macrolides were detected depending on the gene carrier of the SNP ABCB1, SLCO1B1, CYP3A4, АВСС2. Knowledge of the genetically determined metabolism of macrolides in humans can provide new insights into the systemic effects that are available and clinically interesting from their appointment.

The Phenolyzer Suite: Prioritizing the Candidate Genes Involved in Microtia

2019 ◽  
Vol 128 (6) ◽  
pp. 556-562 ◽  
Author(s):  
Huang Xin ◽  
Wang Changchen ◽  
Liu Lei ◽  
Yang Meirong ◽  
Zhang Ye ◽  
...  
Keyword(s):  
Candidate Genes ◽  
High Throughput ◽  
Potential Candidate ◽  
Single Nucleotide Variants ◽  
Gene Score ◽  
Single Nucleotide ◽  
Research Directions ◽  
Score System ◽  
Pathogenic Genes ◽  
First Time

Objective: Microtia is a congenital malformation of the external ear. Great progress about the genetic of microtia has been made in recent years. This article was to prioritize the potential candidate pathogenic genes of microtia based on existing studies and reports, with the purpose of narrowing the range of following study scientifically and quickly. Method: A computational tool called Phenolyzer (phenotype-based gene analyzer) was used to prioritize microtia genes. Microtia, as a query term, was input in the interface of Phenolyzer. After several steps, including disease match, gene query, gene score system, seed gene growth, and gene ranking, the final results about genetic information of microtia were provided. Then we tracked details of the top 10 genes ranked by Phenolyzer on the basis of previous reports. Results: We detected 10 348 genes associated with microtia or related syndromes, and 78 genes of those genes belonged to seed genes. Every gene was given a score, and the gene with higher scores was more likely influence microtia. The top 10 ranked genes included HOXA2, CHD7, CDT1, ORC1, ORC4, ORC6, CDC6, MED12, TWIST1, and GLI3. Otherwise, four gene-gene interactions were displayed. Conclusion: This article prioritized candidate genes of microtia for the first time. High-throughput methods provide tens of thousands of single-nucleotide variants, indels, and structural variants, and only a handful are relevant to microtia or associated syndromes. Combine the ranked potential pathogenic genes list from Phenolyzer with the results of samples provided by high-throughput methods, and more precise research directions are presented.

scholarly journals Post-lingual non-syndromic hearing loss phenotype: a novel homozygous missense mutation in MITF

2019 ◽  
Author(s):  
Athar Khalil ◽  
Samer Bou Karroum ◽  
Rana Barake ◽  
Gabriel Dunya ◽  
Samer Abou-Rizk ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
The Novel ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Genetic Hearing Loss ◽  
Syndromic Hearing Loss ◽  
And Function

Abstract Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we report a multifactorial genetic mode of inheritance in a NSHL consanguineous family using exome sequencing technology. We evaluated the possible effects of the single nucleotide variants (SNVs) detected in our patients using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel p. Pro338Leu missense mutation on the MITF protein was predicted to change the protein structure and function. Conclusion The novel MITF variant is the first bi-allelic SNV in this gene to be associated with an autosomal recessive non-syndromic HL case with a post-lingual onset. Our findings highlight the importance of whole exome sequencing for a comprehensive assessment of the genetic heterogeneity of HL.

scholarly journals Promising areas of research on the pharmacogenetics of dabigatran etexilate

2020 ◽  
pp. 35-41
Author(s):  
A. V. Savinova ◽  
N. A. Shnayder ◽  
M. M. Petrova ◽  
R. F. Nasyrova
Keyword(s):  
Candidate Genes ◽  
Vitamin K ◽  
Vitamin K Antagonists ◽  
Dabigatran Etexilate ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
P Glycoprotein ◽  
Udp Glucuronosyltransferase

Dabigatran etexilate is a prodrug of dabigatran, a direct inhibitor of thrombin. Pharmacokinetics of dabigatran etexilate doesn’t have the disadvantages of vitamin K antagonists. It is considered that CES1 enzyme and P-glycoprotein (CES1 and ABCB1 genes accordingly) play important role in pharmacokinetics of dabigatran etexilate. UDP-glucuronosyltransferase enzymes UGT2B15, UGT1A9, UGT2B7 (UGT2B15, UGT1A9, UGT2B7 genes accordingly) take part in the metabolism of active dabigatran. Presence of these gene’s single-nucleotide variants (SNV) can affect effectiveness and safety of dabigatran etexilate usage. The goal of this review is analysis of promising areas of associated researches of SNV of genes CES1 and ABCB1 and search for new candidate genes that reveal effectiveness and safety of dabigatran etexilate usage.

scholarly journals Next generation sequencing analysis of patients with familial cervical artery dissection

2017 ◽  
Vol 2 (2) ◽  
pp. 137-143 ◽  
Author(s):  
Caspar Grond-Ginsbach ◽  
Tobias Brandt ◽  
Manja Kloss ◽  
Suna Su Aksay ◽  
Philipp Lyrer ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Candidate Genes ◽  
Allele Frequency ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Connective Tissue Disorders ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Cervical Artery ◽  
Stop Loss

Background The cause of cervical artery dissection is not well understood. We test the hypothesis that mutations in genes associated with known arterial connective tissue disorders are enriched in patients with familial cervical artery dissection. Patients and methods Patient duos from nine pedigrees with familial cervical artery dissection were analyzed by whole exome sequencing. Single nucleotide variants in a panel of 11 candidate genes (ACTA2, MYH11, FBN1, TGFBR1, TGFBR2, TGFB2, COL3A1, COL4A1, SMAD3, MYLK and SLC2A10) were prioritized according to functionality (stop-loss, nonsense, and missense variants with polyphen-2 score ≥0.95). Variants classified as “benign” or “likely benign” in the ClinVar database were excluded from further analysis. For comparison, non-benign stop-loss, nonsense and missense variants with polyphen-2 score ≥0.95 in the same panel of candidate genes were identified in the European non-Finnish population of the ExAC database ( n = 33,370). Results Non-benign Single nucleotide variants in both affected patients were identified in four of the nine cervical artery dissection families (COL3A1; Gly324Ser, FBN1: Arg2554Trp, COL4A1: Pro116Leu, and TGFBR2: Ala292Thr) yielding an allele frequency of 22.2% (4/18). In the comparison group, 1782 variants were present in 33,370 subjects from the ExAC database (allele frequency: 1782/66,740 = 2.7%; p = 0.0008; odds ratio = 14.2; 95% confidence interval = 3.8–52.9). Conclusion Cervical artery dissection families showed enrichment for non-benign variants in genes associated with arterial connective tissue disorders. The observation that findings differed across families indicates genetic heterogeneity of familial cervical artery dissection.

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