Agnieszka Maciejewska-Skrendo, Paweł Cięszczyk, Jakub Chycki, Marek Sawczuk and Wojciech Smółka
Athletic performance is a multifactorial phenotype influenced by environmental factors as well as multiple genetic variants. Different genetic elements have a great influence over components of athletic performance such as endurance, strength, power, flexibility, neuromuscular coordination, psychological traits and other features important in sport. The current literature review revealed that to date more than 69 genetic markers have been associated with power athlete status. For the purpose of the present review we have assigned all genetic markers described with reference to power athletes status to seven main groups: 1) markers associated with skeletal muscle structure and function, 2) markers involved in the inflammatory and repair reactions in skeletal muscle during and after exercise, 3) markers involved in blood pressure control, 4) markers involved in modulation of oxygen uptake, 5) markers that are regulators of energy metabolism and cellular homeostasis, 6) markers encoding factors that control gene expression by rearrangement of chromatin fibers and mRNA stability, and 7) markers modulating cellular signaling pathways. All data presented in the current review provide evidence to support the notion that human physical performance may be influenced by genetic profiles, especially in power sports. The current studies still represent only the first steps towards a better understanding of the genetic factors that influence power-related traits, so further analyses are necessary before implementation of research findings into practice.
Paweł Cięszczyk, Marek Sawczuk, Agnieszka Maciejewska, Nijole Jascaniene and Jerzy Eider
Do G894T Polymorphisms of Endothelial Nitric Oxide Synthase 3 (NOS3) Influence Endurance Phenotypes?
Endothelial nitric oxide (NO) synthase gene (NOS3) is taken into account as one of the main regulators of blood pressure and basal vascular dilation - two main factors found to be limiting for endurance performance.
We compared genotypic and allelic frequencies of the NOS3 G894T polymorphism in two groups of men of the same Caucasian descent: elite endurance athletes (rowers; n=63) and sedentary controls (n=160).
We have not found any statistical difference in G894T genotype and allele frequencies in endurance orientated athletes compared to sedentary controls. The difference in G allele frequency between the rowers and controls did not reach statistical significance (73.5% vs. 67.2%, P = 0.307), similar to genotype distribution amongst the rowers (58.7% GG; 39.4% GT; 6.4% TT) compared to controls (43.7% GG; 46.9% GT; 9.4% TT) (P=0.129).
In summary, our results are in contradiction to the hypothesis that NOS3 G894T polymorphism is associated with the physical performance status in rowing. Of course, our findings do not mean that other polymorphisms in NOS3 gene do not have any beneficial effect on performance parameters, but to confirm that hypothesis, we need further studies.
Krzysztof Ficek, Tomasz Kamiński, Ewa Wach, Jerzy Cholewiński and Paweł Cięszczyk
Application of Platelet Rich Plasma in Sports Medicine
Any new method of treatment is associated with high expectations for its success, particularly if the therapy is based not only on the premise of achieving a symptomatic effect, but also improving functional quality and repairing structurally damaged tissues. Platelet Rich Plasma (PRP) application was shown to be a successful catalyst in the healing process for a wide variety of conditions in animal and human models. However, its use has been controversial due to many types of the PRP definition, optimal concentration, and modalities of implementation. In the qualification of patients for PRP treatment, not only should medical indications be considered, but also the role of participation in therapy with a physiotherapist supervising physical parameters and techniques used during recovery time. Further study is required in order to define optimal handling procedures of PRP injection. Long-term follow up will reveal if the promise of this substance can be realized and implemented to maximize its potential as a therapeutic remedy.
Agata Grenda, Marek Sawczuk, Mariusz Kaczmarczyk, Agnieszka Maciejewska, Danuta Umiastowska, Wioletta Łubkowska, Piotr Żmijewski and Paweł Cięszczyk
Single nucleotide polymorphism C825T located within the GNB3 gene has been proposed in the literature as the performance enhancing polymorphism in highly trained athletes. Therefore, the aim of the present study was to verify the hypothesis assuming an association between the C825T polymorphic site and performance of competitive swimmers. The frequencies of C/T alleles and distribution of CC, CT and TT genotypes of the C825T GNB3 polymorphism were compared between athletes and nonathletic controls as well as between sprint and endurance swimmers. Genomic DNA was extracted from 197 competitive swimmers (50 long distance swimmers (LDS) and 147 short distance swimmers (SDS)) and 379 sedentary volunteers. The allele frequencies and genotype distribution of the C825T polymorphic site were not significantly different when LDS and SDS were compared to sedentary controls. Gender-specific analysis did not reveal any significant differences in allele and genotype distribution, neither between female controls and female swimmers nor between male controls and male swimmers. No significant differences in allele frequencies and genotype distribution were observed when LDS and SDS as well as groups of swimmers stratified by gender were compared. The results of this study do not support the hypothesis that the C825T polymorphism of the GNB3 gene is associated with swimming performance in competitive swimmers.
Agata Grenda, Agata Leońska-Duniec, Mariusz Kaczmarczyk, Krzysztof Ficek, Paweł Król, Paweł Cięszczyk and Piotr Żmijewski
We hypothesized that the ACE ID / ACTN3 R577X genotype combination was associated with sprint and endurance performance. Therefore, the purpose of the present study was to determine the interaction between both ACE ID and ACTN3 R577X polymorphisms and sprint and endurance performance in swimmers. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA Miniprep Kit (Sigma, Germany). All samples were genotyped using a real-time poly- merase chain reaction. The ACE I/D and the ACTN3 R577X genotype frequencies met Hardy-Weinberg expectations in both swimmers and controls. When the two swimmer groups, long distance swimmers (LDS) and short distance swimmers (SDS), were compared with control subjects in a single test, a significant association was found only for the ACE polymorphism, but not for ACTN3. Additionally, four ACE/ACTN3 combined genotypes (ID/RX, ID/XX, II/RX and II/XX) were statistically significant for the LDS versus Control comparison, but none for the SDS versus Control comparison. The ACE I/D and the ACTN3 R577X polymorphisms did not show any association with sprint swimming, taken individually or in combination. In spite of numerous previous reports of associations with athletic status or sprint performance in other sports, the ACTN3 R577X polymorphism, in contrast to ACE I/D, was not significantly associated with elite swimming status when considered individually. However, the combined analysis of the two loci suggests that the co-occurrence of the ACE I and ACTN3 X alleles may be beneficial to swimmers who compete in long distance races
Agata Leońska-Duniec, Zbigniew Jastrzębski, Aleksandra Zarębska, Wojciech Smółka and Paweł Cięszczyk
The C/T polymorphism (rs17782313) mapped 188 kb downstream of the melanocortin-4 receptor gene (MC4R) shows a strong relationship with an increased body mass index (BMI) and the risk of type 2 diabetes. However, the information on polymorphism’s potential modifying effect on obesity- and metabolic-related traits achieved through training is still unknown. Therefore, we decided to check if selected body measurements observed in physically active participants would be modulated by the genotype. The genotype distribution was examined in a group of 201 Polish women measured for chosen traits before and after the completion of a 12 week moderate-intensive aerobic training program. A statistically significant relationship between the glucose level and the genotype was identified (p = 0.046). Participants with CC and CT genotypes had a higher glucose level during the entire study period compared with the TT genotype. However, our results did not confirm the relationship between the C allele and an increased BMI or other obesity-related traits. Additionally, we did not observe a near MC4R C/T polymorphism x physical activity interaction. However, our results revealed that majority of obesity-related variables changed significantly during the 12 week training program. The effect sizes (d) of these changes ranged from small to medium (d = 0.11-0.80), whereas the largest effect (d = 0.80; i.e. medium) was reported for the fat mass content (FM). We found a relationship between the near MC4R C/T polymorphism and an increased glucose level, and it is thus a candidate to influence type 2 diabetes. Interestingly, after the 12 week training program, participants with the C (risk) allele with fasting hyperglycemia had a normal glucose level. Although, this change was not statistically significant, it shows an important trend which needs further investigation.
Marta Stępień-Słodkowska, Krzysztof Ficek, Mariusz Kaczmarczyk, Agnieszka Maciejewska-Karłowska, Marek Sawczuk, Agata Leońska-Duniec, Miłosz Stępiński, Paweł Ziętek, Paweł Król, Monika Chudecka and Paweł Cięszczyk
The purpose of this study was to examine the association of the BstUI RFLP C/T (rs 12722) and DpnII RFLP C/T (rs 13946) COL5A1 polymorphisms, individually and as haplotypes, with anterior cruciate ligament ruptures in recreational skiers. Subjects were 138 male recreational skiers with surgically diagnosed primary anterior cruciate ligament ruptures. The control group consisted of 183 apparently healthy male recreational skiers, who were without any self-reported history of ligament or tendon injury. DNA was extracted from buccal cells donated by the subjects and genotyping was carried out using real-time PCR. The genotype distributions for both polymorphisms met Hardy- Weinberg expectations in both groups. There were no significant differences in genotype distribution of allele frequencies of COL5A1 BstUI RFLP C/T and COL5A1 DpnII RFLP C/T polymorphisms between the ACL rupture and control groups. The T-T (BstUI RFLP T, DpnII RFLP T) haplotype was the most common (55.6%). The haplotype T-C was not present in any of the subjects. There was an underrepresentation tendency of the C-T haplotype in the study group compared to controls under recessive mode of inheritance. Higher frequency of the COL5A1 BstUI RFLP C/T and COL5A1DpnII RFLP C/T polymorphisms haplotype is associated with reduced risk of anterior cruciate ligament injury in a group of apparently healthy male recreational skiers.
Paweł Cięszczyk, Jerzy Eider, Magdalena Ostanek, Aleksandra Arczewska, Agata Leońska-Duniec, Stanisław Sawczyn, Krzysztof Ficek and Krzysztof Krupecki
Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes
Alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organization. In skeletal muscle, α-actinin-3 protein is an important structural component of the Z disc, where it anchors actin thin filaments, helping to maintain the myofibrillar array. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes. Based on knowledge about the role of ACTN3 R557X polymorphism in skeletal muscle function, we postulated that the genetic polymorphism of ACTN3 could also improve sprint and power ability.
We compared genotypic and allelic frequencies of the ACTN3 R557X polymorphism in two groups of men of the same Caucasian descent: 158 power-orientated athletes and 254 volunteers not involved in competitive sport.
The genotype distribution in the group of power-oriented athletes showed significant differences (P=0.008) compared to controls. However, among the investigated subgroups of athletes, only the difference of ACTN3 R577X genotype between sprinters and controls reached statistical significance (P=0.041). The frequencies of the ACTN3 577X allele (30.69% vs. 40.35%; P=0.005) were significantly different in all athletes compared to controls. Our results support the hypothesis that the ACTN3 577XX allele may have some beneficial effect on sprintpower performance, because the ACTN3 XX genotype is significantly reduced in Polish power-oriented athletes compared to controls.
This finding seems to be in agreement with previously reported case-control studies. However, ACTN3 polymorphism as a genetic marker for sport talent identification should be interpreted with great caution.
Katarzyna Cieszczyk, Iwona Pasnik, Lech Wronecki, Anna Ostrowska, Pawel Bojar, Barbara Marzec-Kotarska and Justyna Szumilo
Gastric lipomatosis is a condition characterized by the presence of multiple lipomas or diffuse mature adipose tissue infiltration within the gastric wall. The diffuse form is thought to be an extremely rare, with only few described cases. The lesion may be asymptomatic or associated with symptoms and signs depending on location and size. Treatment depends on clinical presentation, range and complications. In a symptomatic disease, it should be surgical, but conservative treatment is preferred for asymptomatic and solitary lesions. Among diagnostic methods, computed tomography and magnetic resonance imaging are thought to be the most valuable.
Andrzej Myśliwiec, Adam Posłuszny, Edward Saulicz, Iwona Doroniewicz, Paweł Linek, Tomasz Wolny, Andrzej Knapik, Jerzy Rottermund, Piotr Żmijewski and Paweł Cieszczyk
Atlanto-axial instability (AAI) is a developmental anomaly often occurring in persons with Down’s syndrome (DS). According to various reports, AAI affects from 6.8 to 27% of the population with DS. The aim of this review was to illustrate the issue of AAI with regard to the progressively changing state of scientific knowledge. The extended distance between the rear surface of the frontal arcus of the C1 cervical vertebra and the anterior surface of C2 cervical vertebra dens (anterior atlanto-odontoid distance, AAOD) indicates the occurrence of AAI and is detectable through X-ray examination. Hypoplasia of the C2 dens, also detectable through X-ray examination, is another suggested risk factor for AAI. According to current data, the methodology of taking measurements is inconsistent, which leads to errors in interpretation. As research focusing on AAI was progressing, new data emerged from other studies on persons with DS, suggesting that neurological symptoms in persons with DS that indicated the occurrence of spinal cord compression were an important factor in medical imaging detection of AAI. One of the main arguments supporting this thesis is that in isolated cases spinal cord (SC) damage was noted during screening examinations conducted on a large population of subjects. Moreover, cases in which the neurological symptoms indicate spinal cord compression existed long before the occurrence of the actual damage also remain of significant importance. Therefore, it is necessary to promote neurological studies on persons with DS to enable early diagnosis of spinal cord compression and, at the same time, reduce the use of medical imaging in cases of neurological symptoms.