The champions' mitochondria: is it genetically determined? A review on mitochondrial DNA and elite athletic performance

2011 ◽  
Vol 43 (13) ◽  
pp. 789-798 ◽  
Author(s):  
Nir Eynon ◽  
María Morán ◽  
Ruth Birk ◽  
Alejandro Lucia
Keyword(s):  
Mitochondrial Dna ◽  
Endurance Exercise ◽  
Current Knowledge ◽  
Geographic Origin ◽  
Aerobic Performance ◽  
East African ◽  
Athletic Status ◽  
The Status ◽  
Genetically Determined ◽  
Mtdna Variants

Aerobic ATP generation by the mitochondrial respiratory oxidative phosphorylation system (OXPHOS) is a vital metabolic process for endurance exercise. Notably, mitochondrial DNA (mtDNA) codifies 13 of the 83 polypeptides implied in the respiratory chain. As such, there is a strong rationale for identifying an association between mtDNA variants and “aerobic” (endurance) exercise phenotypes. The aim of this review is to summarize current knowledge on the association between mtDNA, nuclear genes involved in mitochondriogenesis, and elite endurance athletic status. Several studies in nonathletic people have demonstrated an association between certain mtDNA lineages and aerobic performance, characterized by maximal oxygen uptake (V̇o2max). Whether mtDNA haplogroups are also associated with the status of being an elite endurance athlete is more controversial, with differences between studies arising from the different ethnic backgrounds of the athletic cohorts (Caucasian of mixed geographic origin, Asiatic, or East African).

scholarly journals Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Roland Stengl ◽  
Bence Ágg ◽  
Miklós Pólos ◽  
Gábor Mátyás ◽  
Gábor Szabó ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Marfan Syndrome ◽  
Current Knowledge ◽  
Imaging Techniques ◽  
Connective Tissue Disorder ◽  
Main Body ◽  
Wide Range ◽  
Stratification System ◽  
Genetically Determined ◽  
Aortic Dissections

Abstract Background Marfan syndrome (MFS) is a genetically determined systemic connective tissue disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular, musculoskeletal and ocular systems are affected. The most dangerous manifestation of MFS is aortic dissection, which needs to be prevented by a prophylactic aortic root replacement. Main body The indication criteria for the prophylactic procedure is currently based on aortic diameter, however aortic dissections below the threshold defined in the guidelines have been reported, highlighting the need for a more accurate risk stratification system to predict the occurrence of aortic complications. The aim of this review is to present the current knowledge on the possible predictors of severe cardiovascular manifestations in MFS patients, demonstrating the wide range of molecular and radiological differences between people with MFS and healthy individuals, and more importantly between MFS patients with and without advanced aortic manifestations. These differences originating from the underlying common molecular pathological processes can be assessed by laboratory (e.g. genetic testing) and imaging techniques to serve as biomarkers of severe aortic involvement. In this review we paid special attention to the rapidly expanding field of genotype–phenotype correlations for aortic features as by collecting and presenting the ever growing number of correlations, future perspectives for risk stratification can be outlined. Conclusions Data on promising biomarkers of severe aortic complications of MFS have been accumulating steadily. However, more unifying studies are required to further evaluate the applicability of the discussed predictors with the aim of improving the risk stratification and therefore the life expectancy and quality of life of MFS patients.

Geographic Origin of Human Mitochondrial DNA Revisited

1992 ◽  
Vol 41 (3) ◽  
pp. 384-391 ◽  
Author(s):  
M. Stoneking ◽  
S. T. Sherry ◽  
L. Vigilant
Keyword(s):  
Mitochondrial Dna ◽  
Geographic Origin ◽  
Human Mitochondrial Dna

Abstract 17097: Non-Synonymous Mitochondrial DNA Variants Are Common in Myocardial Tissue of Heart Failure Patients

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Pappu Ananya ◽  
Michael Binder ◽  
Yang Wanjun ◽  
Rebecca McClellan ◽  
Brittney Murray ◽  
...  
Keyword(s):  
Heart Failure ◽  
Mitochondrial Dna ◽  
Nuclear Dna ◽  
Left Ventricular ◽  
Individual Risk ◽  
Myocardial Tissue ◽  
Mtdna Mutation ◽  
Mtdna Mutations ◽  
Ventricular Tissue ◽  
Mtdna Variants

Introduction: Mitochondrial heart disease due to pathogenic mitochondrial DNA (mtDNA) mutations can present as hypertrophic or dilated cardiomyopathy, ventricular arrhythmias and conduction disease. It is estimated that the mutation rate of mtDNA is 10 to 20-fold higher than that of nuclear DNA genes due to damage from reactive oxygen species released as byproducts during oxidative phosphorylation. When a new mtDNA mutation arises, it creates an intracellular heteroplasmic mixture of mutant and normal mtDNAs, called heteroplasmy. Heteroplasmy levels can vary in various tissues and examining mtDNA variants in blood may not be representative for the heart. The frequency of pathogenic mtDNA variants in myocardial tissues in unknown. Hypothesis: Human ventricular tissue may contain mtDNA mutations which can lead to alterations in mitochondrial function and increase individual risk for heart failure. Methods: Mitochondrial DNA was isolated from 61 left ventricular myocardial samples obtained from failing human hearts at the time of transplantation. mtDNA was sequenced with 23 primer pairs. In silico prediction of non-conservative missense variants was performed via PolyPhen-2. Heteroplasmy levels of variants predicted to be pathogenic were quantified using allele-specific ARMS-PCR. Results: We identified 21 mtDNA non-synonymous variants predicted to be pathogenic in 17 hearts. Notably, one heart contained four pathogenic mtDNA variants (ATP6: p.M104; ND5: p.P265S; ND4: p.N390S and p.L445F). Heteroplasmy levels exceeded 90% for all four variants in myocardial tissue and were significantly lower in blood. No pathogenic mtDNA variants were identified in 44 hearts. Hearts with mtDNA mutations had higher levels of myocardial GDF-15 (growth differentiation factor-15; 6.2±2.3 vs. 1.3±0.18, p=0.045), an established serum biomarker in various mitochondrial diseases. Conclusions: Non-synonymous mtDNA variants predicted to be pathogenic are common in human left ventricular tissue and may be an important modifier of the heart failure phenotype. Future studies are necessary to correlate myocardial mtDNA mutations with cardiovascular outcomes and to assess whether serum GDF-15 allows identifying patients with myocardial mtDNA mutations.

Geographic Origin and Genetic Structure of Introduced Sika Deer, Kerama Deer (Cervus nippon keramae) on Ryukyus Inferred from Mitochondrial DNA Sequences

Mammal Study ◽  
2015 ◽  
Vol 40 (3) ◽  
pp. 187-192 ◽  
Author(s):  
Asuka Yamashiro ◽  
Akira Endo ◽  
Hidehiko Kuwataka ◽  
Yuki Matsumoto ◽  
Tadashi Yamashiro
Keyword(s):  
Mitochondrial Dna ◽  
Genetic Structure ◽  
Dna Sequences ◽  
Sika Deer ◽  
Geographic Origin ◽  
Cervus Nippon

scholarly journals Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its Functional Consequences on Yeast ATP Synthase

Life ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 215
Author(s):  
Qiuju Ding ◽  
Róża Kucharczyk ◽  
Weiwei Zhao ◽  
Alain Dautant ◽  
Shutian Xu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Atp Synthase ◽  
Atp Synthesis ◽  
Single Individual ◽  
Loss Of Function ◽  
Mtdna Mutations ◽  
Atp6 Gene ◽  
Novel Variant ◽  
Functional Consequences ◽  
Mtdna Variants

With the advent of next generation sequencing, the list of mitochondrial DNA (mtDNA) mutations identified in patients rapidly and continuously expands. They are frequently found in a limited number of cases, sometimes a single individual (as with the case herein reported) and in heterogeneous genetic backgrounds (heteroplasmy), which makes it difficult to conclude about their pathogenicity and functional consequences. As an organism amenable to mitochondrial DNA manipulation, able to survive by fermentation to loss-of-function mtDNA mutations, and where heteroplasmy is unstable, Saccharomyces cerevisiae is an excellent model for investigating novel human mtDNA variants, in isolation and in a controlled genetic context. We herein report the identification of a novel variant in mitochondrial ATP6 gene, m.8909T>C. It was found in combination with the well-known pathogenic m.3243A>G mutation in mt-tRNALeu. We show that an equivalent of the m.8909T>C mutation compromises yeast adenosine tri-phosphate (ATP) synthase assembly/stability and reduces the rate of mitochondrial ATP synthesis by 20–30% compared to wild type yeast. Other previously reported ATP6 mutations with a well-established pathogenicity (like m.8993T>C and m.9176T>C) were shown to have similar effects on yeast ATP synthase. It can be inferred that alone the m.8909T>C variant has the potential to compromise human health.

scholarly journals Current trends in the Russian translation theory: towards a new methodological standard of translation (book review: Mishkurov, E. N. Hermeneutics of Translation (towards theoretical and methodological standard of translation): monograph

2019 ◽  
Vol 17 (4) ◽  
pp. 108-118
Author(s):  
Anna L. Solomonovskaya
Keyword(s):  
Philosophy Of Language ◽  
Geographic Origin ◽  
Translation Theory ◽  
Controversial Issues ◽  
Rhetorical Device ◽  
Current Trends ◽  
Dionysius The Areopagite ◽  
The Status ◽  
Methodological Standard ◽  
Semantic Differentiation

The article reviews different perspectives concerning the status, origin and functions of double translations in European cultural space throughout the period. The term double translation here refers to the translation of one word with two (rarely more) lexemes connected with a conjunction or another linking word. This technique was universal across medieval translation schools, whatever their geographic origin. However, only particular schools or individual translators have been studied in terms of this technique so far, so the author aims to summarize the findings, delineate some controversial issues in the domain under consideration and place the findings in a common perspective. The controversial issues comprise (but are not limited by) the causes of their emergence in translated texts (from almost accidental fixation of the translator’s hesitation to the conscious decision to apply two different methods of translation based on specific philosophy of language). Another widely discussed question is the status of the words in such a pair – whether they were regarded as synonyms or had another status. One more question that causes discussion is their functions in the text, namely whether they were a rhetorical device or a certain means of semantic differentiation. The author of the article supposes that double translation should be considered dynamically and such chronological consideration makes it possible to argue that double translations first appeared to convey the whole range of meanings of a certain word enabling the reader to make their own choice concerning the exact meaning of the word in each particular context. As for the philosophical or theological background of the technique (be it language philosophy of St. Augustine or the theory of images developed by Pseudo-Dionysius the Areopagite) sometimes assumed to have been intentionally realized by medieval translators, it is hard to verify such claims as the utterances (Prefaces) of the medieval translators themselves hardly mention (with the possible exception of Praefatio Brixiana) either the technique or its presumed theological grounds. Moreover, word pairs (hendyadis) had been used as a rhetorical device both in the literary tradition and the national epic poetry of many European countries. This rhetorical device was widely used for emphasis, so when double translation actually lost its semantic function, it was retained by languages as set phrases or a purely stylistic device.

Social enterprise as poverty reducing strategy for women

2014 ◽  
Vol 10 (3) ◽  
pp. 176-199 ◽  
Author(s):  
Sarah Fotheringham ◽  
Chad Saunders
Keyword(s):  
Social Enterprise ◽  
Poverty Reduction ◽  
Current Knowledge ◽  
Social Enterprises ◽  
Content Type ◽  
Integrative Framework ◽  
Strategic Approach ◽  
The Status ◽  
Practical Tool ◽  
Poverty Reduction Strategy

Purpose – The purpose of this study is to investigate the potential of social enterprise as a strategy for poverty reduction for women. Design/methodology/approach – A literature synthesis on the topic was conducted and patterns, linkages and gaps were examined among key themes to identify how social enterprise can potentially serve as a poverty reduction strategy for women. Findings – The paper presents the findings in terms of specific factors contributing to women’s poverty and hypothesizes mechanisms through which social enterprises can mitigate or address these factors in practice. The paper organizes these findings in an integrative framework that highlights the need to ensure a solid policy foundation is in place before a number of key support mechanisms are enabled, which then facilitate specific types of work that can then grow in a sustainable manner. Research limitations/implications – While the mechanisms and proposed framework are based on the extant literature, additional empirical investigation is required. Practical implications – Women are disproportionately burdened by poverty and the framework presented provides a very practical tool to guide the design of new or diagnosing existing social enterprises targeting poverty reduction for women. Social implications – Without a strategic approach, the risk is either perpetuating the status quo, or worse, placing those women engaged in social enterprises in a worse financial and social position. Originality/value – There is limited research on the poverty reducing role of social enterprise for women and the proposed mechanisms and integrative framework presented provide a means of synthesizing our current knowledge while providing the basis for future investigations.

A Program for an Investigation of the Rudder-Torque Problem

1965 ◽  
Vol 2 (03) ◽  
pp. 282-298
Author(s):  
Karl E. Schoenherr
Keyword(s):  
Research Program ◽  
Current Knowledge ◽  
Lateral Force ◽  
The Status ◽  
The Subject ◽  
Future Work ◽  
Marine Engineers

Panel H-10 (Controllability) of The Society of Naval Architects and Marine Engineers Technical and Research Program was requested to undertake an investigation of existing uncertainties in pre-calculating rudder torque and lateral force. In order to become quickly familiar with the subject and prospects therein, the Panel commissioned the author of this paper to survey the status of current knowledge of the subject and prepare a report of the findings. In particular, this report was to identify the most promising approaches for future work leading to an ultimate solution of the problem and to include technical descriptions of proposed programs for an exhaustive investigation, all of which are discussed in this paper.

scholarly journals Thrombolysis in Cerebral Infarction 2b Reperfusions

Stroke ◽  
2020 ◽  
Vol 51 (11) ◽  
pp. 3461-3471
Author(s):  
Johannes Kaesmacher ◽  
Johanna M. Ospel ◽  
Thomas R. Meinel ◽  
Grégoire Boulouis ◽  
Mayank Goyal ◽  
...  
Keyword(s):  
Cerebral Infarction ◽  
Mechanical Thrombectomy ◽  
Current Knowledge ◽  
Functional Independence ◽  
Decision Making Process ◽  
Net Benefit ◽  
The Status ◽  
Stent Retrievers ◽  
Angiographic Result ◽  
Distal Vessel

In patients undergoing mechanical thrombectomy, achieving complete (Thrombolysis in Cerebral Infarction 3) rather than incomplete successful reperfusion (Thrombolysis in Cerebral Infarction 2b) is associated with better functional outcome. Despite technical improvements, incomplete reperfusion remains the final angiographic result in 40% of patients according to recent trials. As most incomplete reperfusions are caused by distal vessel occlusions, they are potentially amenable to rescue strategies. While observational data suggest a net benefit of up to 20% in functional independence of incomplete versus complete reperfusions, the net benefit of secondary improvement from Thrombolysis in Cerebral Infarction 2b to 3 reperfusion might differ due to lengthier procedures and delayed reperfusion. Current strategies to tackle distal vessel occlusions consist of distal (microcatheter) aspiration, small adjustable stent retrievers, and administration of intra-arterial thrombolytics. While there are promising reports evaluating those techniques, all available studies show relevant limitations in terms of selection bias, single-center design, or nonconsecutive patient inclusion. Besides an assessment of risks associated with rescue maneuvers, we advocate that the decision-making process should also include a consideration of potential outcomes if complete reperfusion would successfully be achieved. These include (1) a futile angiographic improvement (hypoperfused territory is already infarcted), (2) an unnecessary angiographic improvement (the patient would not have developed infarction if no rescue maneuver was performed), and (3) a successful rescue maneuver with clinical benefit. Currently there is paucity of data on how these scenarios can be predicted and the decision whether to treat or to stop in a patient with incomplete reperfusion involves many unknowns. To advance the status quo, we outline current knowledge gaps and avenues of potential research regarding this clinically important question.

Sign in / Sign up

Export Citation Format

Share Document