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Phenotypes of athletic performance and exercise capacity are complex traits influenced by both genetic and environmental factors. This update on the panel of genetic markers (DNA polymorphisms) associated with athlete status summarises recent advances in sports genomics research, including findings from candidate gene and genome-wide association (GWAS) studies, meta-analyses, and findings involving larger-scale initiatives such as the UK Biobank. As of the end of May 2023, a total of 251 DNA polymorphisms have been associated with athlete status, of which 128 genetic markers were positively associated with athlete status in at least two studies (41 endurance-related, 45 power-related, and 42 strength-related). The most promising genetic markers include the AMPD1 rs17602729 C, CDKN1A rs236448 A, HFE rs1799945 G, MYBPC3 rs1052373 G, NFIA-AS2 rs1572312 C, PPARA rs4253778 G, and PPARGC1A rs8192678 G alleles for endurance; ACTN3 rs1815739 C, AMPD1 rs17602729 C, CDKN1A rs236448 C, CPNE5 rs3213537 G, GALNTL6 rs558129 T, IGF2 rs680 G, IGSF3 rs699785 A, NOS3 rs2070744 T, and TRHR rs7832552 T alleles for power; and ACTN3 rs1815739 C, AR ≥21 CAG repeats, LRPPRC rs10186876 A, MMS22L rs9320823 T, PHACTR1 rs6905419 C, and PPARG rs1801282 G alleles for strength. It should be appreciated, however, that elite performance still cannot be predicted well using only genetic testing. [ABSTRACT FROM AUTHOR]

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We present a personalized approach for frequent fitness monitoring in road cycling solely relying on sensor data collected during bike rides and without the need for maximal effort tests. We use competition and training data of three world-class cyclists of Team Jumbo–Visma to construct personalised heart rate models that relate the heart rate during exercise to the pedal power signal. Our model captures the non-trivial dependency between exertion and corresponding response of the heart rate, which we show can be effectively estimated by an exponential kernel. To construct the daily heart rate models that are required for day-to-day fitness estimation, we aggregate all sessions in the previous week and apply sampling. On average, the explained variance of our models is 0.86, which we demonstrate is more than twice as large as for models that ignore the temporal integration involved in the heart's response to exercise. We show that the fitness of a cyclist can be monitored by tracking developments of parameters of our heart rate models. In particular, we monitor the decay constant of the kernel involved, and also analytically determine virtual aerobic and anaerobic thresholds. We demonstrate that our findings for the virtual anaerobic threshold on average agree with the results of exercise tests. We believe this work is an important step forward in performance optimization by opening up avenues for switching to adaptive training programs that take into account the current physiological state of an athlete. [ABSTRACT FROM AUTHOR]

The relationship between running velocity and heart rate has been determined in 320 runners. A deflection from the expected linearity of this relationship has been observed at sub-maximal running speeds. Deflection velocity and anaerobic threshold (established through blood lactate determination) were coincident in 10 runners, thus showing that the increase in running speed exceeding the augmentation in heart frequency above Vd depends on anaerobic ATP production.

Ferrara type of beta 0 thalassaemia has two unusual features: first, normal beta-globin chain synthesis is inducible either in cell-free systems prepared from patients' reticulocytes by adding supernatant factors from non-thalassaemic reticulocyte lysates or in heterologous cell-free translation of thalassaemic mRNA; second, beta-globin synthesis is inducible in patients in vivo after blood transfusion. We now describe a molecular lesion of the beta-globin gene that is common to nine cases of Ferrara beta 0 thalassaemia but cannot be reconciled with the inducible response.

A possible role of the c-myc oncogene in the neoplastic transformation of the human thyroid has been investigated. The structure, the methylation status, and the copy number of this oncogene have been analyzed in normal and in tumor thyroid DNAs by Southern blotting technique and dot blot hybridization. Among six carcinomas, four presented abnormal c-myc DNA structure: Three cases showed a mutation in the 5' flanking region of the gene, originating a new EcoRI site; the other case showed a deletion of 5 kb involving the first exon of the gene. This deletion was also observed in the white blood cells of the same individual. In addition, in three carcinomas a double dose of the oncogene has been demonstrated. In all the carcinomas examined, undermethylation of the c-myc oncogene has been observed. These findings suggest that c-myc oncogene alterations might be involved in the malignant transformation of the human thyroids and can be considered as tumor markers.

5 Azacytidine ribonucleoside (5 Aza CR), greatly enhances erythroid differentiation of the K562(h) cell line, with a sharp increase of embryonic and fetal globin gene expression. This phenomenon is correlated with the undermethylation of gamma-globin but not of epsilon-globin, as the epsilon-globin gene is already extensively undermethylated before 5AzaCR induction. By contrast no variations in both DNA methylation and expression are observed in 7SL RNA genes.

The correlation between expression and extent of DNA methylation of c-myc and c-abl oncogenes has been investigated in the human leukemic K-562 cell line before and after 5-azacytidine-mediated erythroid induction. RNA accumulation was analyzed by cytoplasmic dot hybridization and DNA methylation by using HpaII and MspI endonucleases, which differently cleave the CCGG sequence depending on cytosine methylation. Both the oncogenes are expressed in uninduced cells; however, whereas the c-myc expression does not change following 5-azacytidine treatment, the c-abl expression sharply decreases. The HpaII pattern shows that the c-myc DNA region is undermethylated and that the c-abl gene is hypermethylated both before and after the erythroid induction. Nevertheless, in both the genes 5-azacytidine produces variations in the MspI pattern compatible with mCmCGG to CmCGG demethylations.

mRNA-cDNA hybridization, intact reticulocytes biosynthesis and heterologous cell-free translation studies have been performed in cases of heterozygous beta and delta beta thalassaemia. Results obtained have shown that the relative amount of beta mRNA is higher in Ferrara microcytes than in other heterozygous including delta beta. This indicates that transcription of beta globin gene takes place in Ferrara beta 0 thalassaemia. On the contrary globin biosynthesis studies have failed to show clear-cut differences among the various heterozygous considered and cannot evaluate the translatability of beta thal. FemRNA.

In cases of betaO-thalassaemia from Ferrara, Italy, the beta-globin gene in transcribed into mRNA but no protein is synthesised. For these cases there is no hybridisation data suggesting a globin gene structural mutation. This again demonstrates the diverse molecular events which may cause this prevalent hereditary disease.

Relative alpha and beta chain synthesis in erythroid bursts derived from human bone marrow and peripheral blood are presented. The biosynthetic ratios obtained are compared with those of the reticulocytes. The data obtained cell culture are similar to the "in vivo" ones, showing and alpha/beta ratio of 1 in normal individuals and higher than 1 in beta thalassemic heterozygous. The use of erythroid cell culture as an experimental model for the study of differentiation at molecular level is therefore possible.

In subjects carrying the haemoglobin Hasharon mutation (alpha 47 replaced by His), originally from the delta of the Po river (Northern Italy), the concentration of the alpha-globin variant has been evaluated and found to be approximately 32%, a value definitely higher than that reported for the same mutant haemoglobin in other regions. Restriction enzyme analysis has been carried out on the DNA from these subjects; the data obtained indicate the presence of three alpha-globin genes per diploid cell. Family studies further show that the two normal genes are located on one chromosome and the Hasharon gene on the other. The origin of the single alpha-gene in the Hasharon-carrying subjects of the Ferrara region is discussed in connection with their haematological and biosynthetic data.

The form of alpha-thalassaemia of the Po river delta presents haematological and globin biosynthetic characteristics similar to alpha-thalassaemia-1 but never gives rise to HB H disease nor to hydrops foetalis. In alpha-thalassaemic subjects originally from this region globin mRNA translation and alpha-globin gene arrangement have been investigated. The data obtained indicate that alpha-globin synthesis and reticulocyte alpha-globin mRNA are reduced by one fourth; in addition, since the defect in alpha-globin synthesis does not change with cell ageing, a possible instability of alpha-globin mRNA is excluded. Restriction enzyme analysis of the DNA shows a normal alpha-globin gene organization. This form of alpha-thalassaemia is therefore of the non-deletion type; its molecular lesion is either at the level of alpha-globin mRNA transcription or processing. The fact that this, as well as other forms of non-deletion alpha-thalassaemia, have a phenotypic expression similar to alpha-thalassaemia 1 is discussed.

A library of genomic DNA was prepared from a patient with beta o Ferrara thalassaemia: random human DNA fragments (15 - 20 Kb) have been joined to phage lambda vectors and cloned has viable phage particles (4). 4x10(5) phages have been screened for their content in beta globin gene sequences, using a human beta cDNA plasmid (5) as hybridization probe. Five positive clones have been isolated and characterized by restriction endonuclease cleavage analysis and by the hybridization experiments. The results obtained allow the precise localization of the human fragments inside the beta like globin gene cluster (6). The comparison of the thalassaemic fragments with the normal DNA (6 - 7) shows two different restriction endonuclease sites, for Xba I and Eco RI respectively, downstream from the human beta globin gene.

We studied the relationship between heme accumulation and globin synthesis in human erythroid precursors which were stimulated by 2 I.U. of erythropoietin in semi-solid cultures (1% methyl-cellulose, 20% fetal calf serum) and treated with 6-9 micrograms/ml of desferrioxamina (DF), a potent inhibitor of heme synthesis (6). Heme accumulation was detected by specific reaction with benzidine (4), globin synthesis by CM-cellulose column chromatography. Our results demonstrate that globin gene expression occurs in DF-treated erythroid cells which do not accumulate heme molecules. As heme does affect translation and stability of globin mRNA (10) our system might be suitable for studies focused on pathological alterations of erythropoiesis associated with the presence of unstable globin mRNAs and/or unstable globins.

The effect of a low-dose treatment (10 mg/day) of stanozolol on the anaerobic threshold (AT) and on maximal velocity (Vmax) was studied in ten well-trained runners in a 6-week trial experiment. The serum levels of testosterone (T), interstitial cell-stimulating hormone (ICSH), and of follicle-stimulating hormone (FSH) were determined before, during, and after the steroid administration. No improvements of AT and Vmax were found. No improvement of the competition running times was observed during the experimental period. The ICSH and FSH serum concentrations did not change significantly, while a marked decrease of the T serum concentration was observed. It is concluded that a low-dose treatment of stanozolol, sufficient to depress the testicular function, does not improve athletic performance.

The relationship between velocity (V) and heart rate (HR) was determined in four canoeists, 42 cross-country skiers, 73 cyclists, nine ice-skaters, 10 roller-skaters, 32 rowers, and 20 walkers. The athletes were asked to increase their work intensity progressively, from low to submaximal velocities; HRs were determined by ECG in roller-, ice-skating, and walking, or read on a cardiofrequency meter in canoeing, cross-country skiing, cycling, and rowing. In all the athletes examined the linearity of the V-HR relationship was maintained up to a submaximal speed (deflection velocity, Vd), beyond which the increase in work intensity exceeded the increase in HR. Vd and anaerobic threshold (AT), determined through blood lactate measurements, were coincident in 19 athletes (6 cross-country skiers, 3 cyclists, 2 roller-skaters, 3 rowers, and 5 walkers). Vd was correlated with the average speeds maintained in walking (20 km, n = 13, r = 0.88), cross-country skiing (15 km, n = 20, r = 0.80; 30 km, n = 8, r = 0.82; 12 km, n = 7, r = 0.86; 11 km, n = 7, r = 0.86) and cycling (1,000 m flying-start, n = 68, r = 0.83), thus showing that AT is a limiting factor in these aerobic events.