<I>ACTN3</I> R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude

Ricardo Muller Bottura; Giscard Humberto Oliveira Lima; Debora Cristina Hipolide; Joao Bosco Pesquero

doi:doi:10.11648/j.ijgg.20200804.14

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ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude

Ricardo Muller Bottura, Giscard Humberto Oliveira Lima, Debora Cristina Hipolide, Joao Bosco Pesquero

Published in International Journal of Genetics and Genomics (Volume 8, Issue 4)

Received: 26 October 2020 Accepted: 10 November 2020 Published: 23 November 2020

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Abstract

Introduction: High altitude acclimatization is a process that involve several physiological adjustments, which may increase glucose metabolism because of acute hypoxic exposure. Native highlanders like Tibetans show an increased anaerobic glucose metabolism and a higher proportion of type I muscle fiber than lowlanders. Actin filaments are anchored to the Z line of the sarcomere by a protein called alpha-actinin that exist in two isoforms in the muscle (ACTN2 and ACTN3), however ACTN3 is present only in type II fibers, especially in type IIx. Homozygous individuals for a 577X polymorphism in the ACTN3 gene do not express ACTN3 and seem to be more type I muscle fiber than homozygous individuals 577R. The aim of this study was to compare the glucose consumption response of individuals with different ACTN3 genotypes at simulated 4,500 m altitude. Materials & Methods: Twenty-three volunteers spent four hours exposed to a simulated altitude of 4,500 m inside a normobaric hypoxia chamber. Lactate and glucose concentrations, SpO₂ and heart rate were analyzed immediately before entering the chamber and at each hour during the exposure. Results: Glucose after four hours of exposure to hypoxia was different between groups, with RX (68.1 ± 11.7 mg/dl) and RR (71.7 ± 14.4 mg/dl) showing a decreased blood glucose compared to XX (88.7 ± 14.1 mg/dl), indicating an increased dependence on glucose metabolism in individuals with at least one R allele after exposure at 4,500 m simulated altitude. Conclusions: We concluded that individuals with at least one R allele of the ACTN3 R577X gene polymorphism consume more glucose than the ones with XX genotype.

Published in	International Journal of Genetics and Genomics (Volume 8, Issue 4)
DOI	10.11648/j.ijgg.20200804.14
Page(s)	138-142
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2020. Published by Science Publishing Group

Keywords

ACTN3, Glycemia, Hypoxia, Hypoxemia, Muscle Fiber Type

References

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APA Style

Ricardo Muller Bottura, Giscard Humberto Oliveira Lima, Debora Cristina Hipolide, Joao Bosco Pesquero. (2020). ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude. International Journal of Genetics and Genomics, 8(4), 138-142. https://doi.org/10.11648/j.ijgg.20200804.14

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ACS Style

Ricardo Muller Bottura; Giscard Humberto Oliveira Lima; Debora Cristina Hipolide; Joao Bosco Pesquero. ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude. Int. J. Genet. Genomics 2020, 8(4), 138-142. doi: 10.11648/j.ijgg.20200804.14

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AMA Style

Ricardo Muller Bottura, Giscard Humberto Oliveira Lima, Debora Cristina Hipolide, Joao Bosco Pesquero. ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude. Int J Genet Genomics. 2020;8(4):138-142. doi: 10.11648/j.ijgg.20200804.14

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@article{10.11648/j.ijgg.20200804.14,
  author = {Ricardo Muller Bottura and Giscard Humberto Oliveira Lima and Debora Cristina Hipolide and Joao Bosco Pesquero},
  title = {ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude},
  journal = {International Journal of Genetics and Genomics},
  volume = {8},
  number = {4},
  pages = {138-142},
  doi = {10.11648/j.ijgg.20200804.14},
  url = {https://doi.org/10.11648/j.ijgg.20200804.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20200804.14},
  abstract = {Introduction: High altitude acclimatization is a process that involve several physiological adjustments, which may increase glucose metabolism because of acute hypoxic exposure. Native highlanders like Tibetans show an increased anaerobic glucose metabolism and a higher proportion of type I muscle fiber than lowlanders. Actin filaments are anchored to the Z line of the sarcomere by a protein called alpha-actinin that exist in two isoforms in the muscle (ACTN2 and ACTN3), however ACTN3 is present only in type II fibers, especially in type IIx. Homozygous individuals for a 577X polymorphism in the ACTN3 gene do not express ACTN3 and seem to be more type I muscle fiber than homozygous individuals 577R. The aim of this study was to compare the glucose consumption response of individuals with different ACTN3 genotypes at simulated 4,500 m altitude. Materials & Methods: Twenty-three volunteers spent four hours exposed to a simulated altitude of 4,500 m inside a normobaric hypoxia chamber. Lactate and glucose concentrations, SpO2 and heart rate were analyzed immediately before entering the chamber and at each hour during the exposure. Results: Glucose after four hours of exposure to hypoxia was different between groups, with RX (68.1 ± 11.7 mg/dl) and RR (71.7 ± 14.4 mg/dl) showing a decreased blood glucose compared to XX (88.7 ± 14.1 mg/dl), indicating an increased dependence on glucose metabolism in individuals with at least one R allele after exposure at 4,500 m simulated altitude. Conclusions: We concluded that individuals with at least one R allele of the ACTN3 R577X gene polymorphism consume more glucose than the ones with XX genotype.},
 year = {2020}
}

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TY  - JOUR
T1  - ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude
AU  - Ricardo Muller Bottura
AU  - Giscard Humberto Oliveira Lima
AU  - Debora Cristina Hipolide
AU  - Joao Bosco Pesquero
Y1  - 2020/11/23
PY  - 2020
N1  - https://doi.org/10.11648/j.ijgg.20200804.14
DO  - 10.11648/j.ijgg.20200804.14
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 138
EP  - 142
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20200804.14
AB  - Introduction: High altitude acclimatization is a process that involve several physiological adjustments, which may increase glucose metabolism because of acute hypoxic exposure. Native highlanders like Tibetans show an increased anaerobic glucose metabolism and a higher proportion of type I muscle fiber than lowlanders. Actin filaments are anchored to the Z line of the sarcomere by a protein called alpha-actinin that exist in two isoforms in the muscle (ACTN2 and ACTN3), however ACTN3 is present only in type II fibers, especially in type IIx. Homozygous individuals for a 577X polymorphism in the ACTN3 gene do not express ACTN3 and seem to be more type I muscle fiber than homozygous individuals 577R. The aim of this study was to compare the glucose consumption response of individuals with different ACTN3 genotypes at simulated 4,500 m altitude. Materials & Methods: Twenty-three volunteers spent four hours exposed to a simulated altitude of 4,500 m inside a normobaric hypoxia chamber. Lactate and glucose concentrations, SpO2 and heart rate were analyzed immediately before entering the chamber and at each hour during the exposure. Results: Glucose after four hours of exposure to hypoxia was different between groups, with RX (68.1 ± 11.7 mg/dl) and RR (71.7 ± 14.4 mg/dl) showing a decreased blood glucose compared to XX (88.7 ± 14.1 mg/dl), indicating an increased dependence on glucose metabolism in individuals with at least one R allele after exposure at 4,500 m simulated altitude. Conclusions: We concluded that individuals with at least one R allele of the ACTN3 R577X gene polymorphism consume more glucose than the ones with XX genotype.
VL  - 8
IS  - 4
ER  -

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Author Information

Ricardo Muller Bottura

Psychobiology Department, Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil
Giscard Humberto Oliveira Lima

Department of Movement, Human and Health Sciences, University of Rome “Foro Italico”, Rome, Italia
Debora Cristina Hipolide

Psychobiology Department, Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil
Joao Bosco Pesquero

Biophysics Department, Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil

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APA Style

Ricardo Muller Bottura, Giscard Humberto Oliveira Lima, Debora Cristina Hipolide, Joao Bosco Pesquero. (2020). ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude. International Journal of Genetics and Genomics, 8(4), 138-142. https://doi.org/10.11648/j.ijgg.20200804.14

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ACS Style

Ricardo Muller Bottura; Giscard Humberto Oliveira Lima; Debora Cristina Hipolide; Joao Bosco Pesquero. ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude. Int. J. Genet. Genomics 2020, 8(4), 138-142. doi: 10.11648/j.ijgg.20200804.14

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AMA Style

Ricardo Muller Bottura, Giscard Humberto Oliveira Lima, Debora Cristina Hipolide, Joao Bosco Pesquero. ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude. Int J Genet Genomics. 2020;8(4):138-142. doi: 10.11648/j.ijgg.20200804.14

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@article{10.11648/j.ijgg.20200804.14,
  author = {Ricardo Muller Bottura and Giscard Humberto Oliveira Lima and Debora Cristina Hipolide and Joao Bosco Pesquero},
  title = {ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude},
  journal = {International Journal of Genetics and Genomics},
  volume = {8},
  number = {4},
  pages = {138-142},
  doi = {10.11648/j.ijgg.20200804.14},
  url = {https://doi.org/10.11648/j.ijgg.20200804.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20200804.14},
  abstract = {Introduction: High altitude acclimatization is a process that involve several physiological adjustments, which may increase glucose metabolism because of acute hypoxic exposure. Native highlanders like Tibetans show an increased anaerobic glucose metabolism and a higher proportion of type I muscle fiber than lowlanders. Actin filaments are anchored to the Z line of the sarcomere by a protein called alpha-actinin that exist in two isoforms in the muscle (ACTN2 and ACTN3), however ACTN3 is present only in type II fibers, especially in type IIx. Homozygous individuals for a 577X polymorphism in the ACTN3 gene do not express ACTN3 and seem to be more type I muscle fiber than homozygous individuals 577R. The aim of this study was to compare the glucose consumption response of individuals with different ACTN3 genotypes at simulated 4,500 m altitude. Materials & Methods: Twenty-three volunteers spent four hours exposed to a simulated altitude of 4,500 m inside a normobaric hypoxia chamber. Lactate and glucose concentrations, SpO2 and heart rate were analyzed immediately before entering the chamber and at each hour during the exposure. Results: Glucose after four hours of exposure to hypoxia was different between groups, with RX (68.1 ± 11.7 mg/dl) and RR (71.7 ± 14.4 mg/dl) showing a decreased blood glucose compared to XX (88.7 ± 14.1 mg/dl), indicating an increased dependence on glucose metabolism in individuals with at least one R allele after exposure at 4,500 m simulated altitude. Conclusions: We concluded that individuals with at least one R allele of the ACTN3 R577X gene polymorphism consume more glucose than the ones with XX genotype.},
 year = {2020}
}

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TY  - JOUR
T1  - ACTN3 R577X Polymorphism Impacts Glucose Consumption at Simulated High Altitude
AU  - Ricardo Muller Bottura
AU  - Giscard Humberto Oliveira Lima
AU  - Debora Cristina Hipolide
AU  - Joao Bosco Pesquero
Y1  - 2020/11/23
PY  - 2020
N1  - https://doi.org/10.11648/j.ijgg.20200804.14
DO  - 10.11648/j.ijgg.20200804.14
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 138
EP  - 142
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20200804.14
AB  - Introduction: High altitude acclimatization is a process that involve several physiological adjustments, which may increase glucose metabolism because of acute hypoxic exposure. Native highlanders like Tibetans show an increased anaerobic glucose metabolism and a higher proportion of type I muscle fiber than lowlanders. Actin filaments are anchored to the Z line of the sarcomere by a protein called alpha-actinin that exist in two isoforms in the muscle (ACTN2 and ACTN3), however ACTN3 is present only in type II fibers, especially in type IIx. Homozygous individuals for a 577X polymorphism in the ACTN3 gene do not express ACTN3 and seem to be more type I muscle fiber than homozygous individuals 577R. The aim of this study was to compare the glucose consumption response of individuals with different ACTN3 genotypes at simulated 4,500 m altitude. Materials & Methods: Twenty-three volunteers spent four hours exposed to a simulated altitude of 4,500 m inside a normobaric hypoxia chamber. Lactate and glucose concentrations, SpO2 and heart rate were analyzed immediately before entering the chamber and at each hour during the exposure. Results: Glucose after four hours of exposure to hypoxia was different between groups, with RX (68.1 ± 11.7 mg/dl) and RR (71.7 ± 14.4 mg/dl) showing a decreased blood glucose compared to XX (88.7 ± 14.1 mg/dl), indicating an increased dependence on glucose metabolism in individuals with at least one R allele after exposure at 4,500 m simulated altitude. Conclusions: We concluded that individuals with at least one R allele of the ACTN3 R577X gene polymorphism consume more glucose than the ones with XX genotype.
VL  - 8
IS  - 4
ER  -

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