Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibres
Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha‐actinin‐3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3−/− knock‐out mice show increased activity of multiple enzymes in the aerobic metabolic pathwa...
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| Published in | Acta Physiologica Vol. 204; no. 4; pp. 555 - 561 |
|---|---|
| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.04.2012
Wiley-Blackwell Wiley Subscription Services, Inc |
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| Online Access | Get full text |
| ISSN | 1748-1708 1748-1716 1748-1716 |
| DOI | 10.1111/j.1748-1716.2011.02366.x |
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| Abstract | Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha‐actinin‐3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3−/− knock‐out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre‐type‐specific approach in humans. The purpose of this study was therefore to compare fibre‐type‐specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype.
Methods: Vastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre‐type‐specific assay using enzyme histochemistry.
Results: Cytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers.
Conclusion: In conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3−/− knock‐out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings. |
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| AbstractList | In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3(-/-) knock-out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre-type-specific approach in humans. The purpose of this study was therefore to compare fibre-type-specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype.AIMIn Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3(-/-) knock-out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre-type-specific approach in humans. The purpose of this study was therefore to compare fibre-type-specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype.Vastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre-type-specific assay using enzyme histochemistry.METHODSVastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre-type-specific assay using enzyme histochemistry.Cytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers.RESULTSCytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers.In conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3(-/-) knock-out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings.CONCLUSIONIn conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3(-/-) knock-out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings. Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha‐actinin‐3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3 −/− knock‐out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre‐type‐specific approach in humans. The purpose of this study was therefore to compare fibre‐type‐specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype. Methods: Vastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre‐type‐specific assay using enzyme histochemistry. Results: Cytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers. Conclusion: In conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3 −/− knock‐out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings. In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3(-/-) knock-out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre-type-specific approach in humans. The purpose of this study was therefore to compare fibre-type-specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype. Vastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre-type-specific assay using enzyme histochemistry. Cytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers. In conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3(-/-) knock-out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings. Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha‐actinin‐3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3−/− knock‐out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre‐type‐specific approach in humans. The purpose of this study was therefore to compare fibre‐type‐specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype. Methods: Vastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre‐type‐specific assay using enzyme histochemistry. Results: Cytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers. Conclusion: In conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3−/− knock‐out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings. Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3-/- knock-out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre-type-specific approach in humans. The purpose of this study was therefore to compare fibre-type-specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype. Methods: Vastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre-type-specific assay using enzyme histochemistry. Results: Cytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers. Conclusion: In conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3-/- knock-out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings. [PUBLICATION ABSTRACT] |
| Author | Vincent, B. Nielens, H. Ramaekers, M. Van Leemputte, M. Thomis, M. Van Proeyen, K. Masschelein, E. Hespel, P. Windelinckx, A. |
| Author_xml | – sequence: 1 givenname: B. surname: Vincent fullname: Vincent, B. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium – sequence: 2 givenname: A. surname: Windelinckx fullname: Windelinckx, A. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium – sequence: 3 givenname: K. surname: Van Proeyen fullname: Van Proeyen, K. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium – sequence: 4 givenname: E. surname: Masschelein fullname: Masschelein, E. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium – sequence: 5 givenname: H. surname: Nielens fullname: Nielens, H. organization: Department of Physical Medicine and Rehabilitation, Cliniques Universitaires St-Luc, UCL, Brussels, Belgium – sequence: 6 givenname: M. surname: Ramaekers fullname: Ramaekers, M. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium – sequence: 7 givenname: M. surname: Van Leemputte fullname: Van Leemputte, M. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium – sequence: 8 givenname: P. surname: Hespel fullname: Hespel, P. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium – sequence: 9 givenname: M. surname: Thomis fullname: Thomis, M. organization: Research Centre for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, K. U. Leuven, Leuven, Belgium |
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| Keywords | Human Succinate dehydrogenase ACTN3 R577X Enzyme cytochrome c oxidase Striated muscle enzyme histochemistry Cytochrome c fibre-type specific Vertebrata Mammalia Enzymatic activity Oxidoreductases Histochemistry |
| Language | English |
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| Snippet | Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha‐actinin‐3 protein owing to homozygosity for a stop... Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha‐actinin‐3 protein owing to homozygosity for a stop... In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon... Aim: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop... |
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| SubjectTerms | Actinin - deficiency Actinin - genetics ACTN3 R577X Animals Biological and medical sciences cytochrome c oxidase Electron Transport Complex IV - analysis Electron Transport Complex IV - genetics Electron Transport Complex IV - metabolism enzyme histochemistry Enzymes Female fibre-type specific Fundamental and applied biological sciences. Psychology Genotype Genotype & phenotype Humans Male Mice Mice, Knockout Muscle Fibers, Fast-Twitch - enzymology Muscular system Oxidation-Reduction Polymorphism, Genetic succinate dehydrogenase Succinate Dehydrogenase - analysis Succinate Dehydrogenase - genetics Succinate Dehydrogenase - metabolism Vertebrates: anatomy and physiology, studies on body, several organs or systems Young Adult |
| Title | Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibres |
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