نتایج جستجو برای: actn3

تعداد نتایج: 244  

Journal: :American journal of human genetics 2003
Nan Yang Daniel G MacArthur Jason P Gulbin Allan G Hahn Alan H Beggs Simon Easteal Kathryn North

There is increasing evidence for strong genetic influences on athletic performance and for an evolutionary "trade-off" between performance traits for speed and endurance activities. We have recently demonstrated that the skeletal-muscle actin-binding protein alpha-actinin-3 is absent in 18% of healthy white individuals because of homozygosity for a common stop-codon polymorphism in the ACTN3 ge...

2014
Sabrina Bernardez-Pereira Paulo Caleb Junior Lima Santos Jose Eduardo Krieger Alfredo Jose Mansur Alexandre Costa Pereira

BACKGROUND Previous studies have shown the occurrence of actinin-3 deficiency in the presence of the R577X polymorphism in the ACTN3 gene. Our hypothesis is that this deficiency, by interfering with the function of skeletal muscle fiber, can result in a worse prognosis in patients with chronic heart failure. METHODS A prospective cohort study was conducted from 2002 to 2004. The eligibility c...

2013
Nir Eynon Ruth Birk Yoav Meckel Alejandro Lucia Dan Nemet Alon Eliakim

We report the athletic, physiological and mitochondrial-related genomic data of an Israeli endurance runner. He is holding the Israeli record in 10000, 5000, 1500 and 800m run, along with being one of the best Israeli 400m runners. We tested the ACTN3 R577X, and six polymorphisms in the PPARGC1A-NRF-TFAM pathway genes. The case athlete was heterozygous for the ACTN3 R577X variation and had five...

زمینه و هدف: در دهه اخیر، ژن ACTN3 نماینده مناسبی برای قدرت عضلانی و توان معرفی شده است که می تواند در هدایت نوجوانان به ورزش های مربوطه موثر باشد. هدف پژوهش حاضر، بررسی ارتباط پلی مورفیسم ژن ACTN3 با شاخص های قدرت و توان وزنه برداران نوجوان اردبیلی بود. مواد و روش ها: آزمودنی های پژوهش 16 وزنه بردار نوجوان اردبیلی بودند. عملکرد ورزشی سنجیده شده شامل قدرت و توان انفجاری بود. پلی مورفیسم ژنACTN3...

Journal: :Physiological genomics 2007
Barbara Vincent Katrien De Bock Monique Ramaekers Els Van den Eede Marc Van Leemputte Peter Hespel Martine A Thomis

alpha-Actinin-3 is a Z-disc structural protein found only in type II muscle fibers. The X allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and alpha-actinin-3 deficiency in XX homozygotes. Associations between the R577X polymorphism and the muscle-power performance of elite athletes have been described earlier. About 45% of the fiber type proportions are dete...

Actins are small globular filaments functioning in cell processes like muscle contraction, and stabilized to the sarcomeric Z- discs by actin binding proteins (actinins). One of the important gene coding for actin binding proteins in fast twitch fibers is alpha- actinin- 3 (ACTN3). In this research, we have conducted a gene profile study investigating the genotype and allele distributions of AC...

2016
V Gineviciene A Jakaitiene MO Aksenov AV Aksenova AM Druzhevskaya IV Astratenkova ES Egorova LJ Gabdrakhmanova L Tubelis V Kucinskas A Utkus

The performance of professional strength and power athletes is influenced, at least partly, by genetic components. The main aim of this study was to investigate individually and in combination the association of ACE (I/D), ACTN3 (R577X) and PPARGC1A (Gly482Ser) gene polymorphisms with strength/power-oriented athletes' status in two cohorts of European athletes. A cohort of European Caucasians f...

2017
Jinkyung Cho Inhwan Lee Hyunsik Kang

BACKGROUND Little information is available about molecular markers for sarcopenia and osteoporosis in Asian populations. OBJECTIVE This study investigated the association of the ACTN3 polymorphism with sarcopenia and osteoporotic status in older Korean adults. METHODS Older Korean 62 men and 270 women (mean age 73.7 ± 6.6 years) participated in this study. Body mass index, percent body fatn...

Journal: : 2021

In studies conducted on the relationship between ACTN3 R577X polymorphism and athletic performance, it is known that performance polygenic, but most sensitive provided by gene. Considering results, conformational difference much less (

Journal: :The journals of gerontology. Series A, Biological sciences and medical sciences 2007
Matthew J Delmonico Matthew C Kostek Neil A Doldo Brian D Hand Sean Walsh Joan M Conway Craig R Carignan Stephen M Roth Ben F Hurley

BACKGROUND The alpha-actinin-3 (ACTN3) R577X polymorphism has been associated with muscle power performance in cross-sectional studies. METHODS We examined baseline knee extensor concentric peak power (PP) and PP change with approximately 10 weeks of unilateral knee extensor strength training (ST) using air-powered resistance machines in 71 older men (65 [standard deviation = 8] years) and 86...

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