Literature DB >> 16371478

Does complete deficiency of muscle alpha actinin 3 alter functional capacity in elderly women? A preliminary report.

A F San Juan1, F Gomez-Gallego, S Cañete, C Santiago, M Pérez, A Lucia.   

Abstract

The sarcomeric protein alpha actinin 3 is localised to the Z line of fast fibres, which are responsible for generating forceful muscle contractions at high velocity. However, a substantial proportion of healthy humans are totally deficient in this protein as they are homozygous for a premature stop codon polymorphism (R577X) in the ACTN3 gene. The purpose of this preliminary study was to assess if the presence or absence of alpha actinin 3 influences the deleterious effects of ageing on muscle output and functional capacity.

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Year:  2006        PMID： 16371478      PMCID： PMC2491941          DOI： 10.1136/bjsm.2005.019539

Source DB:  PubMed          Journal:  Br J Sports Med        ISSN： 0306-3674            Impact factor:   13.800


  20 in total

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  9 in total

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3.  Does the ACE I/D polymorphism, alone or in combination with the ACTN3 R577X polymorphism, influence muscle power phenotypes in young, non-athletic adults?

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4.  Single and combined influence of ACE and ACTN3 genotypes on muscle phenotypes in octogenarians.

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8.  Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.

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Journal:  PLoS One       Date:  2011-03-03       Impact factor: 3.240

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  9 in total

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