Association of mitochondrial DNA haplogroups J and K with low response in exercise training among Finnish military conscripts

Abstract Background We have previously suggested that some of the mutations defining mitochondrial DNA (mtDNA) haplogroups J and K produce an uncoupling effect on oxidative phosphorylation and thus are detrimental for elite endurance performance. Here, the association between haplogroups J and K and physical performance was determined in a population-based cohort of 1036 Finnish military conscripts. Results Following a standard-dose training period, excellence in endurance performance was less frequent among subjects with haplogroups J or K than among subjects with non-JK haplogroups (p = 0.041), and this finding was more apparent among the best-performing subjects (p < 0.001). Conclusions These results suggest that mtDNA haplogroups are one of the genetic determinants explaining individual variability in the adaptive response to endurance training, and mtDNA haplogroups J and K are markers of low-responders in exercise training.

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Analysis of functional variants in mitochondrial DNA of Finnish athletes

BMC Genomics ◽

10.1186/s12864-019-6171-6 ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 1

Author(s):

Jukka Kiiskilä ◽

Jukka S. Moilanen ◽

Laura Kytövuori ◽

Anna-Kaisa Niemi ◽

Kari Majamaa

Keyword(s):

Mitochondrial Dna ◽

Oxidative Phosphorylation ◽

Detrimental Effect ◽

Rare Variants ◽

Endurance Performance ◽

Endurance Athletes ◽

Mutational Load ◽

Mtdna Haplogroups ◽

Functional Variants ◽

Mtdna Variants

Abstract Background We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between elite endurance and sprint athletes. For this purpose, we determined the rate of functional variants and the mutational load in mtDNA of Finnish athletes (n = 141) and controls (n = 77) and determined the sequence variation in haplogroups. Results The distribution of rare and common functional variants differed between endurance athletes, sprint athletes and the controls (p = 0.04) so that rare variants occurred at a higher frequency among endurance athletes. Furthermore, the ratio between rare and common functional variants in haplogroups J and K was 0.42 of that in the remaining haplogroups (p = 0.0005). The subjects with haplogroup J and K also showed a higher mean level of nonsynonymous mutational load attributed to common variants than subjects with the other haplogroups. Interestingly, two of the rare variants detected in the sprint athletes were the disease-causing mutations m.3243A > G in MT-TL1 and m.1555A > G in MT-RNR1. Conclusions We propose that endurance athletes harbor an excess of rare mtDNA variants that may be beneficial for oxidative phosphorylation, while sprint athletes may tolerate deleterious mtDNA variants that have detrimental effect on oxidative phosphorylation system. Some of the nonsynonymous mutations defining haplogroup J and K may produce an uncoupling effect on oxidative phosphorylation thus favoring sprint rather than endurance performance.

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Mitochondrial DNA Haplogroups and Susceptibility to Prostate Cancer in a Colombian Population

ISRN Oncology ◽

10.1155/2014/530675 ◽

2014 ◽

Vol 2014 ◽

pp. 1-11

Author(s):

D. Cano ◽

C. F. Gomez ◽

N. Ospina ◽

J. A. Cajigas ◽

H. Groot ◽

...

Keyword(s):

Prostate Cancer ◽

Mitochondrial Dna ◽

Native Americans ◽

Population Based ◽

Lower Percentage ◽

Control Group ◽

Mtdna Sequences ◽

Population Based Study ◽

Mtdna Haplogroups ◽

The Relationship

Prostate cancer (PC) is one of the most common cancers and the second leading cause of mortality from cancer in Colombian men. Mitochondrial DNA (mtDNA) haplogroups have been associated with the risk of PC. Several studies have demonstrated dramatic differences regarding the risk of PC among men from different ethnic backgrounds. The present study was aimed at assessing the relationship between mtDNA haplogroups and PC. The mitochondrial DNA hypervariable segment I (HSV-1) was sequenced in a population-based study covering 168 cases (CA) and 140 unrelated healthy individuals as a control group (CG). A total of 92 different mtDNA sequences were found in CA and 59 were found in the CG. According to the geographical origin attributed to each mtDNA haplogroup, 82% of the mtDNA sequences found in both groups were Native Americans (A, B, C, and D). The most frequent was A (41.1%CA–42.1%CG), followed by B (22.0%CA–21.4%CG), C (12.0%CA–11.4%CG), and D (6%CA–10.0%CG). A lower percentage of European haplogroups (U, H, K, J, M, T, and HV) were also found (13.1%CA–12.9%CG), likewise African haplogroups (L0, L1, L2, and L3) (6.5%CA–2.1%CG). There were no statistically significant differences between the distribution of mtDNA haplogroups in CA and the CG in this study.

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Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts

Scientific Reports ◽

10.1038/s41598-020-79931-6 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Jaakko Laaksonen ◽

Pashupati P. Mishra ◽

Ilkka Seppälä ◽

Leo-Pekka Lyytikäinen ◽

Emma Raitoharju ◽

...

Keyword(s):

Blood Pressure ◽

Mitochondrial Dna ◽

Genome Wide Association Study ◽

Rare Variants ◽

Meta Analysis ◽

Noncommunicable Diseases ◽

Nucleotide Polymorphisms ◽

Genetic Determinants ◽

Genome Wide ◽

Mitochondrial Dna Variants

AbstractHigh blood pressure (BP) is a major risk factor for many noncommunicable diseases. The effect of mitochondrial DNA single-nucleotide polymorphisms (mtSNPs) on BP is less known than that of nuclear SNPs. We investigated the mitochondrial genetic determinants of systolic, diastolic, and mean arterial BP. MtSNPs were determined from peripheral blood by sequencing or with genome-wide association study SNP arrays in two independent Finnish cohorts, the Young Finns Study and the Finnish Cardiovascular Study, respectively. In total, over 4200 individuals were included. The effects of individual common mtSNPs, with an additional focus on sex-specificity, and aggregates of rare mtSNPs grouped by mitochondrial genes were evaluated by meta-analysis of linear regression and a sequence kernel association test, respectively. We accounted for the predicted pathogenicity of the rare variants within protein-encoding and the tRNA regions. In the meta-analysis of 87 common mtSNPs, we did not observe significant associations with any of the BP traits. Sex-specific and rare-variant analyses did not pinpoint any significant associations either. Our results are in agreement with several previous studies suggesting that mtDNA variation does not have a significant role in the regulation of BP. Future studies might need to reconsider the mechanisms thought to link mtDNA with hypertension.

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The effects of exercise training and antioxidant supplementation on endurance performance and antioxidant enzyme defences

Journal of Science and Medicine in Sport ◽

10.1016/s1440-2440(03)80155-x ◽

2003 ◽

Vol 6 (4) ◽

pp. 64

Keyword(s):

Exercise Training ◽

Antioxidant Enzyme ◽

Endurance Performance ◽

Antioxidant Supplementation

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Nutrition for Older Athletes: Focus on Sex-Differences

Nutrients ◽

10.3390/nu13051409 ◽

2021 ◽

Vol 13 (5) ◽

pp. 1409

Author(s):

Barbara Strasser ◽

Dominik Pesta ◽

Jörn Rittweger ◽

Johannes Burtscher ◽

Martin Burtscher

Keyword(s):

Sex Differences ◽

Exercise Training ◽

Role Model ◽

Healthy Aging ◽

Endurance Performance ◽

Metabolic Efficiency ◽

Older Athletes ◽

Age Related ◽

Masters Athletes ◽

Physical Capacities

Regular physical exercise and a healthy diet are major determinants of a healthy lifespan. Although aging is associated with declining endurance performance and muscle function, these components can favorably be modified by regular physical activity and especially by exercise training at all ages in both sexes. In addition, age-related changes in body composition and metabolism, which affect even highly trained masters athletes, can in part be compensated for by higher exercise metabolic efficiency in active individuals. Accordingly, masters athletes are often considered as a role model for healthy aging and their physical capacities are an impressive example of what is possible in aging individuals. In the present review, we first discuss physiological changes, performance and trainability of older athletes with a focus on sex differences. Second, we describe the most important hormonal alterations occurring during aging pertaining regulation of appetite, glucose homeostasis and energy expenditure and the modulatory role of exercise training. The third part highlights nutritional aspects that may support health and physical performance for older athletes. Key nutrition-related concerns include the need for adequate energy and protein intake for preventing low bone and muscle mass and a higher demand for specific nutrients (e.g., vitamin D and probiotics) that may reduce the infection burden in masters athletes. Fourth, we present important research findings on the association between exercise, nutrition and the microbiota, which represents a rapidly developing field in sports nutrition.

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Gender influences coronary L-type Ca2+current and adaptation to exercise training in miniature swine

Journal of Applied Physiology ◽

10.1152/jappl.2001.91.6.2503 ◽

2001 ◽

Vol 91 (6) ◽

pp. 2503-2510 ◽

Cited By ~ 18

Author(s):

D. K. Bowles

Keyword(s):

Smooth Muscle ◽

Exercise Training ◽

Endurance Training ◽

Coronary Arteries ◽

Current Density ◽

Adaptive Response ◽

Heart Weight ◽

Internal Diameter ◽

Resistance Arteries ◽

Miniature Swine

Endurance exercise training increases smooth muscle L-type Ca2+current density in both resistance and proximal coronary arteries of female miniature swine. The purpose of the present study was to determine 1) whether gender differences exist in coronary smooth muscle (CSM) L-type Ca2+ current density and 2) whether endurance training in males would demonstrate a similar adaptive response as females. Proximal, conduit (∼1.0 mm), and resistance [∼200 μm (internal diameter)] coronary arteries were obtained from sedentary and treadmill-trained swine of both sexes. CSM were isolated by enzymatic digestion (collagenase plus elastase), and voltage-gated Ca2+-channel current ( I Ca) was determined by using whole cell voltage clamp during superfusion with 75 mM tetraethylammonium chloride and 10 mM BaCl2. Current-voltage relationships were obtained at test potentials from −60 to 70 mV from a holding potential of −80 mV, and I Ca was normalized to cell capacitance (pA/pF). Endurance treadmill training resulted in similar increases in heart weight-to-body weight ratio, endurance time, and skeletal muscle citrate synthase activity in male and female swine. I Ca density was significantly greater in males compared with females in both conduit (−7.57 ± 0.58 vs. −4.14 ± 0.47 pA/pF) and resistance arteries (−11.25 ± 0.74 vs. −6.49 ± 0.87 pA/pF, respectively). In addition, voltage-dependent activation of I Ca in resistance arteries was shifted to more negative membrane potentials in males. Exercise training significantly increased I Ca density in both conduit and resistance arteries in females (−7.01 ± 0.47 and −9.73 ± 1.13 pA/pF, respectively) but had no effect in males (−8.61 ± 0.50 and −12.04 ± 1.07 pA/pF, respectively). Thus gender plays a significant role in determining both the magnitude and voltage dependence of I Ca in CSM and the adaptive response of I Ca to endurance training.

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INFLUENCE ON HOMEOSTASIS AS THE CRITERION FOR SELECTING SINGLE NUCLEOTIDE POLYMORPHISMS FOR THE STUDY OF METABOLIC SYNDROM IN THE KAZAKH POPULATION

REPORTS ◽

10.32014/2020.2518-1483.123 ◽

2020 ◽

Vol 5 (333) ◽

pp. 86-93

Author(s):

V.V. Benberin ◽

◽

T.A. Voshchenkova ◽

A.A. Nagymtayeva ◽

A.S. Sibagatova ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Traditional Approach ◽

Population Based ◽

Malignant Neoplasms ◽

Nucleotide Polymorphisms ◽

Genetic Determinants ◽

Single Nucleotide ◽

Sequence Of Events ◽

Kazakh Population ◽

Symptom Complex

Metabolic syndrome (MS) is increasingly cited as the world's leading health risk. The sequence of events toward multimorbidity in most cases passes through MS. According to the research, MS heritability ranges from 23 to 27% in Europeans, and 51 to 60% in Asians. The purpose of the review: to form a strategy for the selection of single nucleotide polymorphisms (SNPs) for the study of MS in the Kazakh population based on the effect of SNPs on homeostasis indicators The stable symptom complex of MS is a complicated dynamic system of successive accumulations of dysmetabolic disorders of homeostasis. This system starts the development of subsequent age-associated diseases), such as cardiometabolic, neurodegenerative, and malignant neoplasms. The system for selecting SNPs for the MS study, proposed on the basis of the concept of homeostasis dysfunction, assumes, in conditions of limited resources, to see the greatest level of their influence within the conditional framework of three genetic models of homeostasis dysregulation: insulin resistance , oxidative stress, and chronic inflammation. This approach is fundamentally different from the traditional approach involving candidate genes. It is expected that scientific research in this direction will contribute not only to the understanding of general biological processes, but also to the targeted search for genetic determinants and for new opportunities for personalized interventions.

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