Polygenic Study of Endurance-Associated Genetic Markers NOS3 (Glu298Asp), BDKRB2 (-9/+9), UCP2 (Ala55Val), AMPD1 (Gln45Ter) and ACE (I/D) in Polish Male Half Marathoners

The purpose of this study was to investigate individually and in combination the association between the ACE (I/D), NOS3 (Glu298Asp), BDKRB2 (-9/+9), UCP2 (Ala55Val) and AMPD1 (Gln45Ter) variants with endurance performance in a large, performance-homogenous cohort of elite Polish half marathoners. The study group consisted of 180 elite half marathoners: 76 with time 100 minutes. DNA of the subjects was extracted from buccal cells donated by the runners and genotyping was carried out using an allelic discrimination assay with a C1000 Touch Thermal Cycler (Bio-Rad, Germany) instrument with TaqMan® probes (NOS3, UCP2, and AMPD1) and a T100™ Thermal Cycler (Bio-Rad, Germany) instrument (ACE and BDKRB2). We found that the UCP2 Ala55Val polymorphism was associated with running performance, with the subjects carrying the Val allele being overrepresented in the group of most successful runners (100 min group (84.2 vs. 55.8%; OR = 4.23, p 100 min group (73.7 vs. 51.9%; OR = 2.6, p = 0.0034). These data suggest that the likelihood of becoming an elite half marathoner partly depends on the carriage of a high number of endurance-related alleles

The aspects of sex, age and nationality in winter swimming performance

OBJECTIVE Winter swimming is a new sport discipline. Very little is known, however, about the sex differences, origin, participation and performance of the world's best winter swimmers. Therefore, the study aimed to investigate sex differences in performance and age. Furthermore, it should be determined which country has the fastest swimmers, the highest numbers of participants and the most successful age group athletes in winter swimming. SUBJECTS AND METHODS A total of 6,477 results from the 25 m events of the IWSA (International Winter Swimming Association) World Cups from 2016-2020 was collected from the official website of IWSA. Data were analyzed using a generalized linear model (GLM) with a gamma probability distribution and identity link function. The 25 m events were carried out in head-up breaststroke style, freestyle and butterfly. The nationalities were grouped into six groups, the five nationalities with the highest number of participants in the 25 m competitions and one group with the other nationalities. The mean time of 25 m races by sex and country of the total sample was compared. For the top 10 comparisons, the best ten athletes from the six groups were selected. The mean time of each top 10 groups was compared by sex and nationality. RESULTS Men were faster than women for all categories. Swimmers in age group 15-29 years were the fastest, where females were the fastest in age group 15-19 years and males in age group 20-29 years. Women from both Russia and Estonia and men from both Russia and China were the fastest. Both Russian and Chinese males were the fastest in all water categories in the top 10 section in the 25 m events. CONCLUSIONS In summary, males were faster than females in the IWSA World Cups between 2016 and 2020. The age group of 15-29 years old athletes was the most successful while females had their age of peak performance earlier than males. Russian and Estonian males and Russian females were the overall fastest in the 25 m events in all water categories. Future studies should investigate the optimal anthropometric characteristics of male and female winter swimming sprint athletes and whether there are distinct areas in Russia, Estonia and China, where many international winter swimming athletes originate

Physical activity characterization:Does one site fit all?

Background: It is evident that a growing number of studies advocate a wrist-worn accelerometer for the assessment of patterns of physical activity a priori, yet the veracity of this site rather than any other body-mounted location for its accuracy in classifying activity is hitherto unexplored. Objective: The objective of this review was to identify the relative accuracy with which physical activities can be classified according to accelerometer site and analytical technique. Methods: A search of electronic databases was conducted using Web of Science, PubMed and Google Scholar. This review included studies written in the English language, published between database inception and December 2017, which characterized physical activities using a single accelerometer and reported the accuracy of the technique. Results: A total of 118 articles were initially retrieved. After duplicates were removed and the remaining articles screened, 32 full-text articles were reviewed, resulting in the inclusion of 19 articles that met the eligibility criteria. Conclusion: There is no 'one site fits all' approach to the selection of accelerometer site location or analytical technique. Research design and focus should always inform the most suitable location of attachment, and should be driven by the type of activity being characterized

Molecular basis of malignant hyperthermia

Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two arc alternatively spliced

Diagnostyka molekularna w biologii i medycynie

In the last decade, the development and application of molecular techniques has revolutionised the diagnosis and monitoring of human diseases. Nucleic acids techniques, such as microbial DNA genotyping, analysis of restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR), are making progress in medical diagnostic laboratories. Sequence analysis of amplified DNA allows better identification of pathogen, detection of mutant genes and more accurate prognosis of certain diseases.W ostatnim dziesięcioleciu rozwój i wdrożenie technik molekularnych zrewolucjonizowało diagnostykę i monitorowanie chorób człowieka. Techniki badań kwasów nukleinowych, takie jak genotypowanie DNA mikroorganizmów, analiza polimorfizmu fragmentów restrykcyjnych (RFLP) i reakcja łańcuchowa polimerazy (PCR) przyczyniają się do stałego postępu w laboratoriach diagnostyki medycznej. Analiza sekwencji amplifikowanych fragmentów DNA umożliwia lepszą identyfikację patogenów, wykrywanie zmutowanych genów a także prognozowanie określonych chorób