The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.
Homozygosity for a premature stop codon (X) in the ACTN3 "sprinter" gene is common in humans despite the fact that it reduces muscle size, strength and power. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R5...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4480966?pdf=render |
| _version_ | 1818288378033995776 |
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| author | Chelsea L Deschamps Kimberly E Connors Matthias S Klein Virginia L Johnsen Jane Shearer Hans J Vogel Joseph M Devaney Heather Gordish-Dressman Gina M Many Whitney Barfield Eric P Hoffman William E Kraus Dustin S Hittel |
| author_facet | Chelsea L Deschamps Kimberly E Connors Matthias S Klein Virginia L Johnsen Jane Shearer Hans J Vogel Joseph M Devaney Heather Gordish-Dressman Gina M Many Whitney Barfield Eric P Hoffman William E Kraus Dustin S Hittel |
| author_sort | Chelsea L Deschamps |
| collection | DOAJ |
| description | Homozygosity for a premature stop codon (X) in the ACTN3 "sprinter" gene is common in humans despite the fact that it reduces muscle size, strength and power. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R577X polymorphism over cardiovascular and metabolic characteristics of young adults (n = 98 males, n = 102 females; 23 ± 4.2 years) from our Assessing Inherent Markers for Metabolic syndrome in the Young (AIMMY) study. Both males and females with the RR vs XX genotype achieved higher mean VO2 peak scores (47.8 ± 1.5 vs 43.2 ±1.8 ml/O2/min, p = 0.002) and exhibited higher resting systolic (115 ± 2 vs 105 ± mmHg, p = 0.027) and diastolic (69 ± 3 vs 59 ± 3 mmHg, p = 0.005) blood pressure suggesting a role for ACTN3 in the maintenance of vascular tone. We subsequently identified the expression of alpha-actinin 3 protein in pulmonary artery smooth muscle, which may explain the genotype-specific differences in cardiovascular adaptation to acute exercise. In addition, we utilized targeted serum metabolomics to distinguish between RR and XX genotypes, suggesting an additional role for the ACTN3 R577X polymorphism in human metabolism. Taken together, these results identify significant cardiometabolic effects associated with possessing one or more functional copies of the ACTN3 gene. |
| first_indexed | 2024-12-13T01:55:25Z |
| format | Article |
| id | doaj.art-6a8c4452e9f34899a8c9c75345a2f593 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-13T01:55:25Z |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-6a8c4452e9f34899a8c9c75345a2f5932022-12-22T00:03:25ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-01106e013064410.1371/journal.pone.0130644The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.Chelsea L DeschampsKimberly E ConnorsMatthias S KleinVirginia L JohnsenJane ShearerHans J VogelJoseph M DevaneyHeather Gordish-DressmanGina M ManyWhitney BarfieldEric P HoffmanWilliam E KrausDustin S HittelHomozygosity for a premature stop codon (X) in the ACTN3 "sprinter" gene is common in humans despite the fact that it reduces muscle size, strength and power. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R577X polymorphism over cardiovascular and metabolic characteristics of young adults (n = 98 males, n = 102 females; 23 ± 4.2 years) from our Assessing Inherent Markers for Metabolic syndrome in the Young (AIMMY) study. Both males and females with the RR vs XX genotype achieved higher mean VO2 peak scores (47.8 ± 1.5 vs 43.2 ±1.8 ml/O2/min, p = 0.002) and exhibited higher resting systolic (115 ± 2 vs 105 ± mmHg, p = 0.027) and diastolic (69 ± 3 vs 59 ± 3 mmHg, p = 0.005) blood pressure suggesting a role for ACTN3 in the maintenance of vascular tone. We subsequently identified the expression of alpha-actinin 3 protein in pulmonary artery smooth muscle, which may explain the genotype-specific differences in cardiovascular adaptation to acute exercise. In addition, we utilized targeted serum metabolomics to distinguish between RR and XX genotypes, suggesting an additional role for the ACTN3 R577X polymorphism in human metabolism. Taken together, these results identify significant cardiometabolic effects associated with possessing one or more functional copies of the ACTN3 gene.http://europepmc.org/articles/PMC4480966?pdf=render |
| spellingShingle | Chelsea L Deschamps Kimberly E Connors Matthias S Klein Virginia L Johnsen Jane Shearer Hans J Vogel Joseph M Devaney Heather Gordish-Dressman Gina M Many Whitney Barfield Eric P Hoffman William E Kraus Dustin S Hittel The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults. PLoS ONE |
| title | The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults. |
| title_full | The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults. |
| title_fullStr | The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults. |
| title_full_unstemmed | The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults. |
| title_short | The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults. |
| title_sort | actn3 r577x polymorphism is associated with cardiometabolic fitness in healthy young adults |
| url | http://europepmc.org/articles/PMC4480966?pdf=render |
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