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    Does MCT1-T1470A Polymorphism Modify Lactate Kinetics and Training Status?
    (Mattioli 1885, 2021) Turgay, Faruk; Bilgin, Zafer; Yigitturk, Oya; Durmaz, Burak; Asikovali, Semih; Koksala, Ahmet
    Study Objectives: The (MCT1-T1470A) polymorphism related to monocarboxylate transporters 1 (MCTs) which transport lactate (LA) may affect LA kinetics and training status, which is unclear. Methods: Participants in the athletic group (AG; 42 anaerobic athletes; 21.8 +/- 2.7 years) and the control group (CG; 39 sedentary men; 23.0 +/- 3.3 years) performed the Yoyo recovery level 1 test. LA elimination speeds were calculated by dividing the difference between LA5, LA15, and LA30 values of passive recovery corresponding to the 5th, 15th, and 30th minutes following the Yoyo test by the elapsed time. MCT1 polymorphism was determined from genomic DNA samples by next-generation sequencing. Results:The LA5, LA15, and LA30 values of the control group were significantly higher than those of the athlete group (p=0.053, p=0.042, and p=0.028, respectively), but not for LA elimination speeds. There was no significant difference for these parameters between genotype groups. Although the VO2max of the AA control group was significantly greater than that of the T carrier ( Tc) control group, there was no significant difference for VO2max between the athletic genotype groups (AA and Tc). Conclusions: MCT1-T1470A polymorphism did not have a significant effect on LA kinetics in athletes. However, the AA group was negatively affected for VO2max compared to the Tc group. This may be due to extreme sensitivity of the AA group to the training caused by this polymorphism. Further studies are needed to shed light on this entity.
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    Does the TMPRSS6 C > T Polymorphism Modify the Endurance Training Effects on Hematological Parameters?
    (Springernature, 2022) Kahraman, Cansu; Turgay, Faruk; Yigitturk, Oya; Canuzmez, Aykut Eren; Durmaz, Burak; Asikovali, Semih
    This study investigated the role of TMPRSS6 C > T polymorphism (TMPRP) on the effects of chronic aerobic training on main hematological parameters in male soccer referees, which is yet unknown. Two groups composed of total of 45 healthy male soccer referees and 42 sedentary were compared for hemogram, serum hepcidin, ferritin, and iron levels. TMPRP was determined from genomic DNA samples. Participants' physical and physiological (Yoyo endurance level-2 test) measurements were carried out. The athletic T carrier (Tc = TT + TC) group RBC count was significantly higher than the control (p < 0.01), whereas the athletic CC homozygous group serum iron and transferrin saturation (TS) were lower than the control depending on the TMPRP. The ferritin and iron values of the athletic Tc group were higher than of the athletic CC group (29.2% and 14.1%, respectively; p > 0.05) although the control Tc group RBC (p < 0.05) and iron (23.8%, p > 0.05) values were lower than the control CC due to genetic tendency. The training did not change hepcidin levels. These results suggest that the TMPRP can modify the endurance training effects on iron and TS levels and RBC count (in the CC and Tc groups) respectively. The CC group may be adversely affected for iron and TS from endurance trainings. It may be recommended that the training programs should be organized according to phenotype characteristics.
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    Genotype-phenotype correlation and mutation spectrum of HBB gene in the Hatay province of Turkey
    (Cukurova Univ, Fac Medicine, 2024) Kacmaz, Murat; Asikovali, Semih
    Purpose: Thalassemia carriage and hemoglobinopathies are quite common disorders in Turkey, especially in the cukurova region, including Hatay province. Due to the high case population and genetic diversity in our region, this study aimed to investigate the genotype-phenotype correlation in the HBB gene. Materials and Methods: The data of patients who applied to Hatay Mustafa Kemal University Medical Genetics or Hematology Clinic between January 2010 and November 2022 were evaluated retrospectively. Results: A total of 40 (100%) cases, comprising 25 (62.5%) homozygous and 15 (37.5%) compound heterozygous genotypes, were included in the study based on the mutation profiles in the HBB gene. In the analysis of the cases, it was seen that there were 17 different variants and 22 distinct genotypes. The three most common variants identified in this study were IVS-I-6 (T>C), IVS-I-1 (G>A), and IVS-II-848 (C>A). Of the cases with homozygous genotypes, 13 (52%) had the IVSI-6 (T>C) variant. The most frequent genotypes observed in cases with compound heterozygous genotype were IVSI-6 (T>C)/IVS-I-110 (G>A), IVS-I-6 (T>C)/Hb Knossos, and IVS-I-110 (G>A)/-101 C>T, each in 2 (13%) cases. Conclusion: This study provides information on the phenotypic characteristics of very rare genotypes. We think that this information will be very beneficial, especially for clinicians interested in prenatal diagnosis, preimplantation genetic diagnosis, and postnatal genetic counseling.