Into the Blue: First in Man Data on Diving Physiology in Fontan Patients.

Swimming and diving are popular recreational activities. As congenital heart disease, especially patients with univentricular hearts after Fontan palliation are thought to have reduced physiologic capacities for compensation of submersion-associated physiologic demands, current guidelines put restraints on this group of patients. Although these restrictions on doctoral advice place a significant burden on affected patients, it is especially interesting that these guideline recommendations are merely based on physiologic assumptions, i.e., expert consensus. A recent study by Paech et al. presented the first in vivo data on the effects of immersion in Fontan patients, stating no major adverse events in their study group as well as comparable physiologic adaption as reported in the literature for healthy people. Yet, submersion was not reflected in this study, and the current study therefore aimed to conduct a first study for the evaluation of the effects of submersion and apnea diving in Fontan patients. A control group of healthy adults as well as patients recruited from the Heart Center Leipzig, Department of pediatric cardiology underwent a standardized diving protocol including a static as well as dynamic apnea phase. Physiologic data were recorded. This study presents the first structured data on diving physiology in Fontan patients compared to healthy probands. There were no adverse events. The physiologic response to diving seems to be comparable between healthy probands and Fontan patients. Although, healthy probands did reach a much better performance, the basic mechanisms of physiologic adaption seem comparable.

Blood pressure response to dynamic exercise testing in adolescent elite athletes, what is normal?

Background: In general, only few studies are dedicated to blood pressure behavior under physical stress in children and adolescents. Even less is published about the blood pressure behavior of young high-performance athletes on the ergometer. For this reason, we evaluated the blood pressure behavior under stress compared to non-athletes in a large collective (n = 739) of young high-performance athletes (age 10-20 years, mean 15.8 years, male 442, female 297) of different sports. A complete echocardiographic examination was available in all athletes. Result: Regardless of gender, the young competitive athletes achieved significantly higher maximum blood pressure values than investastigated populations from previous studies. Based on the data obtained, blood pressure percentiles are now defined explicitly for junior athletes across sports as well as age- and gender-dependent, which did not exist in this form of normal values for the special clientele of young competitive athletes. The echocardiographic examinations demonstrated stress-induced cardiac adaptation adaptations in the majority of athletes, which thus correlate with the comparatively higher stress blood pressures compared to non-athletes. Conclusion: For the first time, blood pressure percentiles for exercise tests on the ergometer for age groups and gender in high performance athletes are defined based on a comparatively large collective of young competitive athletes. Upper limits were determined, in particular for systolic blood pressure under stress, and categorized according to gender and age. Performance diagnosticians and physicians are now enabled to make a more accurate assessment of the corresponding blood pressure regulation of young athletes under exercise conditions.

The Fontan and the Sea: First-in-Man Data on Swimming and Diving Physiology in Fontan Patients.

While swimming represents a popular recreational activity, the immersion of the human body into the water requires a complex physiologic adaption of the whole cardiopulmonary and circulatory system. While this sport is regarded as beneficial, especially in cardiovascular patients, current guidelines hypothesized a possible hazardous effect of swimming and especially diving in patients with univentricular hearts after Fontan palliation. Yet, actual data to underline or contradict these assumptions are lacking. Therefore, this study aimed to conduct a first feasibility study for the evaluation of these effects on Fontan physiology and elucidate the gap of evidence currently preventing patients after Fontan palliation from being restricted from swimming or diving on doctoral advice. Patients recruited from the Heart Center Leipzig, Department of pediatric cardiology, underwent spiroergometry treadmill testing followed by a spiroergometry swimming stress test in a counter current pool. Physiologic data were recorded. A short apnea diving test was performed. The current study found similar physiologic reactions comparing treadmill and swimming exercise stress testing. Heart rate response and oxygen uptake were comparable on land and in the water. This study presents the first-in-man data on swimming and diving in Fontan patients. In this small study cohort of three Fontan patients, there were no adverse events triggered by swimming and breath-hold diving seen. Basically, the physiologic response to exercise was comparable on land and in the water.

Cardiac MRI findings to differentiate athlete's heart from hypertrophic (HCM), arrhythmogenic right ventricular (ARVC) and dilated (DCM) cardiomyopathy.

To provide clinically relevant criteria for differentiation between the athlete's heart and similar appearing hypertrophic (HCM), dilated (DCM), and arrhythmogenic right-ventricular cardiomyopathy (ARVC) in MRI. 40 top-level athletes were prospectively examined with cardiac MR (CMR) in two university centres and compared to retrospectively recruited patients diagnosed with HCM (n = 14), ARVC (n = 18), and DCM (n = 48). Analysed MR imaging parameters in the whole study cohort included morphology, functional parameters and late gadolinium enhancement (LGE). Mean left-ventricular enddiastolic volume index (LVEDVI) was high in athletes (105 ml/m2) but significantly lower compared to DCM (132 ml/m2; p = 0.001). Mean LV ejection fraction (EF) was 61% in athletes, below normal in 7 (18%) athletes vs. EF 29% in DCM, below normal in 46 (96%) patients (p < 0.0001). Mean RV-EF was 54% in athletes vs. 60% in HCM, 46% in ARVC, and 41% in DCM (p < 0.0001). Mean interventricular myocardial thickness was 10 mm in athletes vs. 12 mm in HCM (p = 0.0005), 9 mm in ARVC, and 9 mm in DCM. LGE was present in 1 (5%) athlete, 8 (57%) HCM, 10 (56%) ARVC, and 21 (44%) DCM patients (p < 0.0001). Healthy athletes' hearts are characterized by both hypertrophy and dilation, low EF of both ventricles at rest, and increased interventricular septal thickness with a low prevalence of LGE. Differentiation of athlete's heart from other non-ischemic cardiomyopathies in MRI can be challenging due to a significant overlap of characteristics also seen in HCM, ARVC, and DCM.

Physical fitness and plasma leptin in women with recent gestational diabetes.

AIMS/HYPOTHESIS: Low physical fitness (PF) is a risk factor for type 2 diabetes mellitus (T2D). Women with a history of gestational diabetes (GDM) are at risk for T2D at a young age, but the role of PF in this population is not clear. PF has also been found to correlate inversely with plasma leptin in previous studies. Here, we examine whether women who had GDM have lower PF than women after a normoglycemic pregnancy and, second, whether PF is associated with plasma leptin, independently of body fat mass. METHODS: Cross-sectional analysis of 236 participants in the PPSDiab Study (cohort study of women 3-16 months after delivery, 152 after gestational diabetes (pGDM), 84 after normoglycemic pregnancy (control subjects); consecutively recruited 2011-16); medical history, physical examination with bioelectrical impedance analysis (BIA), whole body magnetic resonance imaging (MRI) (n = 154), 5-point oral glucose tolerance test, cardiopulmonary exercise testing, clinical chemistry including fasting plasma leptin; statistical analysis with Mann-Whitney U and t -test, Spearman correlation coefficient, multiple linear regression. RESULTS: Women pGDM had lower maximally achieved oxygen uptake (VO2peak/kg: 25.7(21.3-29.9) vs. 30.0(26.6-34.1)ml/min/kg; total VO2peak: 1733(1552-2005) vs. 1970(1767-2238)ml/min; p<0.0001 for both), and maximum workload (122.5(105.5-136.5) vs. 141.0(128.5-159.5)W; p<0.0001). Fasting plasma leptin correlated inversely with PF (VO2peak/kg ρ = -0.72 p<0.0001; VO2peak ρ = -0.16 p = 0.015; max. load ρ = -0.35 p<0.0001). These associations remained significant with adjustment for body mass index, or for body fat mass (BIA and MRI). CONCLUSIONS/INTERPRETATION: Women with a recent history of GDM were less fit than control subjects. Low PF may therefore contribute to the risk for T2D after GDM. This should be tested in intervention studies. Low PF also associated with increased leptin levels-independently of body fat. PF may therefore influence leptin levels and signaling. This hypothesis requires further investigation.

Traumeel vs. diclofenac for reducing pain and improving ankle mobility after acute ankle sprain: a multicentre, randomised, blinded, controlled and non-inferiority trial.

BACKGROUND: Acute ankle sprains are common and activity limiting injuries, and topical diclofenac gel has proven efficacy in alleviating pain and restoring function. This trial aimed to compare a topical natural agent, Traumeel with topical diclofenac gel (1%) in the management of acute ankle sprain. METHODS: This prospective, multicentre, randomised, blinded, active-control and non-inferiority study involved 449 physically active adults sustaining unilateral grade 1 or 2 ankle sprain within the past 24 h. Participants were randomised to receive 2 g of Traumeel ointment (T-O) (n = 152) or Traumeel gel (T-G) (n = 150) or diclofenac gel (D-G) (n = 147), administered topically to the ankle three times a day for 14 days, with 6-weeks follow up. RESULTS: Day 7 median percentage reductions in Visual Analogue Scale pain score were 60.6%, 71.1% and 68.9% for the T-O, T-G and D-G groups, respectively. Total pain relief was reported by 12 (8.5%), 7 (5.0%) and 8 (5.9%) participants in each group, respectively. Median improvements in Foot and Ankle Ability Measure Activities of Daily Living subscale score were 26.2, 26.2 and 25.0 points for T-O, T-G and D-G groups, respectively. Mann-Whitney effect sizes and lower bound confidence intervals demonstrated non-inferiority of Traumeel vs. diclofenac for reducing pain and functional improvement. At 6 weeks, participants reported total pain relief and normal functioning. Adverse events (n = 43) were reported by 31/447 participants (6.9%). Treatments were equally well tolerated. CONCLUSIONS: T-O and T-G decreased pain and improved joint function to the same extent as D-G in acute ankle sprain, and were well tolerated.

Single nucleotide polymorphisms in the myostatin (MSTN) and muscle creatine kinase (CKM) genes are not associated with elite endurance performance.

Maximal oxygen uptake (VO2max) is one of the most important determinants of elite endurance performance. VO2max is determined by a whole range of genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in muscle myostatin (MSTN) and creatine kinase (CKM) genes are candidates for VO2max and skeletal muscle performance phenotypes. Common MSTN (rs3791783, rs11681628 and rs7570532) and CKM (rs344816, rs10410448, rs432979, rs1133190, rs7260359, rs7260463 and rs4884) SNPs, selected from HapMap CEU data in order to tag the genetic variability of the proteins, were genotyped in 316 male Caucasian elite endurance athletes and 304 sedentary controls from the Genathlete study. Association with elite endurance performance was determined by logistic regression analysis. The P-value for statistical significance was set at <0.01. None of the SNPs or haplotypes showed a significant association with elite endurance status. We conclude that common variants of MSTN and CKM genes do not play a role in attaining high-level endurance performance in Caucasian populations.

Endothelial nitric oxide synthase gene polymorphism and elite endurance athlete status: the Genathlete study.

In the Genathlete study, we examined the contribution of three polymorphisms in the endothelial nitric oxide synthase (NOS3) gene to discriminate elite endurance athletes (EEA) from sedentary controls (SC). The EEA group included a total of 316 Caucasian males with a VO2max >75 mL/kg. The SC group comprised 299 unrelated sedentary Caucasian males who had VO2max values below 50 mL/kg. The polymerase chain reaction technique was used to amplify a microsatellite (CA)(n) repeat in intron 13, a 27 bp repeat in intron 4 and a third fragment in exon 7 containing the Glu298Asp SNP. No difference was found between the EEA and SC groups for the 27 bp repeat and the Glu298Asp polymorphism. Chi-square analysis of the overall allelic distribution of the (CA)(n) repeat revealed no significant difference between the two groups (P=0.135). However, comparing carriers and non-carriers for the most common (CA)(n) repeat alleles, we found significant differences between SC and EEA, with more EEA subjects carrying the 164 bp allele (P=0.007). In summary, we found suggestive evidence that the 164 bp allele of the (CA)(n) repeat in intron 13 is associated with EEA status and may account for some of the differences between EEA and SC.

[FIFA World Cup 2006--healthcare services]. / Der medizinische Einsatzplan der FIFA: Sicherheit für Spieler, Fans und Funktionäre.

The medical services available to official participants in the FIFA World Championship 2006 will be provided by the FIFA itself, or its Organization Committee for Germany. For the first time, FIFA requires comprehensive screening examinations for the players, and this will be a prerequisite for participation in the tournament. The structures for the provision of medical care during the World Championship tournament are described taking the plans for the Munich venue as an example.

[Sudden cardiac death in sports]. / So erkennen Sie die Vorboten.

Sudden cardiac death in persons actively practicing in sports is usually due to cardiovascular disease. In athletes younger than 35 years, the most common diagnosis is hypertrophy of the left ventricle, an anomaly of the coronary arteries, acute myocarditis, or right-ventricular dysplasia. 80% of older athletes are found to have coronary heart disease. For those actively engaged in serious sports activities, such examinations as ECG, exercise ECG and echocardiogra phy are essential elements of medical screening. In the case of leisure sports activities, the German Society for Sports Medicine and Prevention recommend that a medical check be done before a person starts to seriously practice sport, with the aim of identifying cardiovascular factors or anomalies.

[World Football Championship 2006--anti-doping regulations]. / Anti-doping-Vorgaben für Leistungssportler verschärft: Was muss der betreuende Arzt beachten?

On the basis of the current anti-doping requirements for the World Cup, major processes and regulations are explained. Over and beyond the area of football, they are highly relevant for physicians responsible for the care and treatment of professional athletes. Apart from a knowledge of the respective current anti-doping list of banned substances, the administrative guidelines for the application to use notifiable substances must be complied with. In order to avoid errors resulting in serious consequences for athletes, the care-providing physician in professional sport must have immediate access to the necessary information on anti-doping regulations, and be familiar with the contact addresses of the respective anti-doping authorities.

A three-week traditional altitude training increases hemoglobin mass and red cell volume in elite biathlon athletes.

It is well known that altitude training stimulates erythropoiesis, but only few data are available concerning the direct altitude effect on red blood cell volume (RCV) in world class endurance athletes during exposure to continued hypoxia. The purpose of this study was to evaluate the impact of three weeks of traditional altitude training at 2050 m on total hemoglobin mass (tHb), RCV and erythropoietic activity in highly-trained endurance athletes. Total hemoglobin mass, RCV, plasma volume (PV), and blood volume (BV) from 6 males and 4 females, all members of a world class biathlon team, were determined on days 1 and 20 during their stay at altitude as well as 16 days after returning to sea-level conditions (800 m, only males) by using the CO-rebreathing method. In males tHb (14.0 +/- 0.2 to 15.3 +/- 1.0 g/kg, p < 0.05) and RCV (38.9 +/- 1.5 to 43.5 +/- 3.9 ml/kg, p < 0.05) increased at altitude and returned to near sea-level values 16 days after descent. Similarly in females, tHb (13.0 +/- 1.0 to 14.2 +/- 1.3 g/kg, p < 0.05) and RCV (37.3 +/- 3.3 to 42.2 +/- 4.1 ml/kg, p < 0.05) increased. Compared to their sea-level values, the BV of male and female athletes showed a tendency to increase at the end of the altitude training period, whereas PV was not altered. In male athletes, plasma erythropoietin concentration increased up to day 4 at altitude (11.8 +/- 5.0 to 20.8 +/- 6.0 mU/ml, p < 0.05) and the plasma concentration of the soluble transferrin receptor was elevated by about 11 % during the second part of the altitude training period, both parameters indicating enhanced erythropoietic activity. In conclusion, we show for the first time that a three-week traditional altitude training increases erythropoietic activity even in world class endurance athletes leading to elevated tHb and RCV. Considering the relatively fast return of tHb and RCV to sea-level values after hypoxic exposure, our data suggest to precisely schedule training at altitude and competition at sea level.

Freiburg Intervention Trial for Obese Children (FITOC): results of a clinical observation study.

BACKGROUND: The Freiburg Intervention Trial for Obese Children (FITOC) is an interdisciplinary, outpatient program for obese children consisting of regular physical exercise and comprehensive dietary and behavioral education. Parental involvement is required. The study is designed as a longitudinal, nonrandomized clinical observation study. An 8-month intensive phase preceded a follow-up phase of 1 y or longer. METHODS: Data were collected from 31 groups comprising 496 children (267 girls, 229 boys), with an average age of 10.5 y. Body height and weight, fasting total-cholesterol (CH), low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C) and physical performance were measured initially and after 8.5 months. A group of n = 35 obese children (16 girls, 19 boys) who did not take part in this intervention program served as controls. RESULTS: After the intensive intervention phase, body mass index (BMI, kg/m2) as well as BMI deviation scores (BMI-SDS) decreased in both sexes (P<0.001). In the controls, BMI increased (P<0.001) and BMI-SDS remained constant. Whereas CH was only significantly lower (P<0.01) in boys after 8.5 months, LDL-C decreased significantly in both sexes. HDL-C tended to increase in both sexes (not significant). The controls showed no significant changes in CH, LDL-C and HDL-C. The fitness levels (W/kg body weight) improved in the intervention group (P<0.001), but not in the control group. CONCLUSIONS: The results indicate that obese children can be successfully treated in such an intervention program. BMI-SDS and risk factors decreased and physical performance improved. To maintain therapeutical success, we highly recommended that these children enroll in community-based exercise programs in order to help them maintain a more active lifestyle after the follow-up phase.

[Freiburg intervention program for ambulatory therapy of obesity in childhood (FITOC)]. / Freiburger Interventionsprogramm zur ambulanten Therapie der Adipositas im Kindesalter (FITOC).

In this study we first try to answer the question, whether it is possible to make a successful treatment for obese children in an interdisciplinary program. Second it is asked whether a transfer of this program to further regions in Germany leads to comparable results. In FITOC children from the age of 8-11 years and over the 97. BMI-percentile are integrated in this program. The goals weight management, increased physical fitness and improvement of the cardiac risk profile are checked by weight, height, fasting blood serum, a standardized cycle ergometry and a medical measurement at the beginning, after treatment and at all check-ups. The recorded medical data show clearly that the intervention leads to a significant improvement in almost all checked parts. The successful treatment can be recorded after 8 months, likewise after 2.5 years as a long-term result. The further cornerstones of FITOC nutrition and psychology are not subject of this publication. In future the psychological part in FITOC will be evaluated by standardized inventories. The group from Düren has a success in therapy according to the definition of the program. Thereby it is shown that FITOC is extendable, if teams are trained intensively and the conditions are comparable. FITOC is able to treat obese children successfully over a long period of time. In consideration of the rising prevalence of obesity in childhood and the limited financial resources in health care this outpatient interdisciplinary program is an effective choice of treatment.

Blood volume and hemoglobin mass in elite athletes of different disciplines.

Although it is well known that athletes have considerably larger blood volumes than untrained individuals, there is no data available describing the blood volume variability among differently trained athletes. The first aim of the study was to determine whether athletes from different disciplines are characterized by different blood volumes and secondly to what extent the blood volume can possibly limit endurance performance within a particular discipline. We investigated 94 male elite athletes subdivided into the following 6 groups: downhill skiing (DHS), swimming (S), running (R), triathlon (TA), cycling junior (CJ) and cycling professional (CP). Two groups of untrained subjects (UT) and leisure sportsmen (LS) served as controls. Total hemoglobin (tHb) and blood volume (BV) were measured by the CO-rebreathing method. In comparison to UT (mean +/- SD: tHb 11.0 +/- 1.1 g/kg, BV 78.3 +/- 7.9 ml/kg) tHb and BV were about 35 - 40 % higher in the endurance groups R, TA, CJ, and CP (e. g. in CP: tHb 15.3 +/- 1.3 g/kg, BV 107.1 +/- 7.0 ml/kg). Within the endurance groups we found no significant differences. The anaerobic discipline DHS was characterized by very low BV (87.6 +/- 3.1 ml/kg). S had an intermediate position (BV 97.4 +/- 6.1 ml/kg), probably because of the immersion effects during training in the water. VO(2)max was significantly related to tHb and BV not only in the whole group but also in all endurance disciplines. The reasons for the different BVs are an increased adaptation to training stimuli and probably also individual predisposing genetic factors.

The human gene map for performance and health-related fitness phenotypes.

The aim of this paper is to describe the first human gene map for physical performance and health-related fitness traits based on the papers published until the end of 2000. Studies of candidate genes using case-control and other designs are reviewed. Quantitative trait loci from the limited evidence reported to date in genomic scans are also incorporated. Performance and fitness phenotypes in the sedentary state as well as their changes during exercise, if applicable, or in response to exercise training are considered. Physical performance traits include cardiorespiratory endurance indicators and muscular strength or muscular performance variables. Health-related fitness phenotypes are grouped under the following categories: hemodynamic traits; anthropometry and body composition; insulin and glucose metabolism; and lipids, lipoproteins, and hemostatic factors. A yearly update of this human gene map will be published.

[The Freiburg Intervention Trial for Obesity in Chidren (FITOC)]. / Freiburger Interventionsprogramm zur ambulanten Therapie der Adipositas im Kindesalter (FITOC).

Freiburg Intervention Trial for Obese Children (FITOC) is an interdisciplinary treatment program for obese children, which is established in Freiburg since 1987. Obese children at the age of 8-11 are treated in an eight months intensive period and a follow-up period of 4 months or more. Since 1990 data from 283 children coming out of 15 treatment groups (about 2 groups per year) were collected and analyzed. The program consists of regular physical training (3 times a week), comprehensive nutrition and behaviour training (overall 7 parents evenings each 4 to 6 weeks and 7 cookery courses for the kids in the same time scale). The parents evenings are filled with theoretical and practical information about nutrition as well as background information about the psychological and physiological problems in obese children. In the first examination and the regular control examinations anthropometric, biochemical and exercise physiology data are investigated. In addition, questionnaires for nutrition and behaviour are analysed on a regular basis. At each examination, depending on the progress in therapy, a new orientation with adapted goals will be discussed with the child and the parents. For the growing children a moderate reduction or long term stabilisation of weight will lead to success. Teaching goal for the children in the intensive period is to control themselves and, depending on their specific situation, to establish individual recommendations on a long term basis. The sports program should lead to an increase in self-esteem and a raise in daily energy expenditure. The team includes a physician, a nutritionist, a psychologist and a sports teacher. From 1997 the program was spread to institutions in the surroundings of Freiburg. Training for the external teams is provided for in continuous seminars. Teaching material includes a manual, forms and transparencies. The major goal is to secure quality by continuous training and close interaction between the institutions. Till now the program is performed by a couple of multiplication groups in different regions of Germany. First data analysis has shown that the out-patient program is transferable and comparable results are reachable after a standardized training course for the included therapists. The plan for 2000 and 2001 is to increase the number of centers involved to a total of 20 all over Germany.

A polymorphism in the alpha2a-adrenoceptor gene and endurance athlete status.

PURPOSE: In a case control study, we examined the allelic frequencies and genotype distributions of two restricted fragment length polymorphisms (RFLP) in the alpha-2A-adrenoceptor gene (ADRA2A) and beta-2-adrenoceptor gene (ADRB2) among elite endurance athletes (EEA) and sedentary controls (SC). METHODS: The EEA group included 148 Caucasian male subjects recruited on the basis that they had a VO2max > 74 mL O2 x kg(-1) x min(-1). The SC group comprised 149 unrelated sedentary male subjects, all Caucasians, from the Quebec Family Study. After digestion with the restriction enzymes Dra I (ADRA2A) and Ban I (ADRB2), Southern blotting and hybridization techniques were used to detect the mutations in the two ADR genes, which are encoded on chromosomes 10 (q24-26) and 5 (q31-32), respectively. RESULTS: For the Dra I ADRA2A RFLP, we observed a significant difference in genotype distributions between the two groups (P = 0.037). A higher frequency of the 6.7-kb allele was observed in the EEA group compared with the SC group (P = 0.013). No statistically significant difference was found between groups for the Ban I ADRB2 polymorphic site. Genotype frequencies for both genes in both groups were in Hardy-Weinberg equilibrium. CONCLUSIONS: In summary, we found evidence that ADRA2A gene variability detected with Dra I is weakly associated with elite endurance athlete status, and we conclude that genetic variation in the ADRA2A gene or a locus in close proximity may play a role in being able to sustain the endurance training regimen necessary to attain a high level of maximal aerobic power.

No association between the angiotensin-converting enzyme ID polymorphism and elite endurance athlete status.

Several studies have reported that the insertion (I) allele of the angiotensin-converting enzyme (ACE) I/deletion (D) polymorphism is associated with enhanced responsiveness to endurance training and is more common in endurance athletes than in sedentary controls. We tested the latter hypothesis in a cohort of 192 male endurance athletes with maximal oxygen uptake >/=75 ml. kg(-1). min(-1) and 189 sedentary male controls. The ACE ID polymorphism in intron 16 was typed with the three-primer polymerase chain reaction method. Both the genotype (P = 0.214) and allele (P = 0.095) frequencies were similar in the athletes and the controls. Further analyses in the athletes revealed no excess of the I allele among the athletes within the highest quartile (> 80 ml. kg(-1). min(-1)) or decile (>83 ml. kg(-1). min(-1)) of maximal oxygen uptake. These data from the GENATHLETE cohort do not support the hypothesis that the ACE ID polymorphism is associated with a higher cardiorespiratory endurance performance level.

Three mitochondrial DNA restriction polymorphisms in elite endurance athletes and sedentary controls.

This study examined the associations between elite endurance athlete (EEA) status and three mitochondrial DNA (mtDNA) restriction fragment length polymorphisms (RFLPs) in the subunit 5 of the NADH dehydrogenase (MTND5) locus and one in the D-loop region. A group of 125 Caucasian male EEA well endowed with the phenotypic expression of VO2max (78.9 +/- 3.8 mL x kg(-1) x min(-1), mean +/- SD) and 65 sedentary controls (SCON: VO2max = 39.8 +/- 8.2 mL x kg(-1) x min(-1)) participated in the study. VO2max was determined during an incremental exercise test on a cycle ergometer or a motor-driven treadmill. mtDNA was extracted from white blood cells or lymphoblastoid cell lines and specific regions were amplified by the polymerase chain reaction. The Pearson Chi-square statistic test and Fisher exact test revealed no significant association (P > 0.05) between any of the three mtDNA RFLPs and EEA status. The MTND5-BamHI RFLP at bp 13,470 (morph 3) was found in 12.8% of the EEA and 12.3% of the SCON (chi2 = 0.009, P = 0.92). The prevalence of the MTND5-Ncil RFLP at bp 13,364 (morph 2) was 12.9% and 14% for the EEA and SCON, respectively (chi2 = 0.043, P = 0.83). The D-loop-KpnI RFLP at bp 16,133 (morph 1) was found in 5.8% of the EEA and in 1.6% of the SCON (Fisher exact test = 1.80, P = 0.18). The MTND5-HincII RFLP at bp 12,406 (morph 1) was not present in this study sample. These results indicate no evidence for a difference in the frequency of two polymorphic restriction sites in the subunit 5 of the NADH dehydrogenase gene of mtDNA and one in the D-loop region between elite endurance athletes and sedentary controls.