POLYMORPHISM OF THE Α-Actn3 GENE IN INDIVIDUALS PRACTISING DIFFERENT SPORTS DISCIPLINES

Holdys, Joanna; Stanisławski, Daniel; Kryściak, Jakub; Gronek, Piotr

doi:10.5604/942738

Cited by 19 publications

(16 citation statements)

References 11 publications

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“…[ 4 ] initiated the discussion about ACTN3 influence on elite athletic performance and was soon followed by others [ 1 , 3 , 6 ] . To date, several polymorphism determination studies have been done by many researchers in order to find the suitable genotype in different sports.…”

Section: Discussionmentioning

confidence: 99%

“…This gene codes for the major and important structural proteins that are located within sarcomeric Z lines, there they anchor actin filaments, maintain myofibrillar arrays and have roles in signaling functions [ 1 , 2 ] . The mononucleotide transition at position 1747 (C>) in the ACTN3 coding sequence leads to the change of amino acid arginine (R) to a stop codon (X) in codon 577 (R577X), producing a short form of protein.…”

Section: Introductionmentioning

confidence: 99%

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Preliminary Findings of α-Actinin-3 Gene Distribution in Elite Turkish Wind Surfers

Ulucan

Göle

Altindas

et al. 2013

Balkan Journal of Medical Genetics

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A common polymorphism in the α -actinin-3 ( ACTN3 R577X) gene represents one of the most widely examined variations in terms of performance and genetic predisposition to certain sports. The aim of the present study was to examine the ACTN3 R577X polymorphism in elite Turkish wind surfers. The genotyping procedure was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Five male and three female wind surfers, eight elite wind surfers in total, were enrolled in the study. Five of the surfers had RX, two had XX and one had RR genotypes. Previous findings indicated that the X allele was the endurance allele. Our findings were in agreement with the previous reports. Seven of our subjects had at least one copy of the X allele that was considered to have a tendency to prolong endurance. Our preliminary results must be supported with further studies in greater numbers of subjects to clarify the effect of gene polymorphism.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Preliminary Findings of α-Actinin-3 Gene Distribution in Elite Turkish Wind Surfers

Ulucan

Göle

Altindas

et al. 2013

Balkan Journal of Medical Genetics

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“… 7 ACTN3 codes for ACTN3 in humans, and its expression is restricted to fast, type 2 fibers. 8 North et al 9 reported that a deficiency of α-actinin protein because of a premature stop codon in ACTN3 alters the designation for the amino acid arginine to a stop codon at position 577 (R577X; dbSNP rs1815739) in exon 16 and may contribute to the possibility of differential fitness. The ACTN3 577R allele and 577RR genotype are associated with top-level, power-orientated athletic performance in a wide array of ethnic groups.…”

Section: Introductionmentioning

confidence: 99%

Distribution of Angiotensin-1 Converting Enzyme Insertion/Deletion and α-Actinin-3 Codon 577 Polymorphisms in Turkish Male Soccer Players

2015

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Angiotensin-1 converting enzyme (ACE) gene and α-actinin-3 (ACTN3) gene polymorphisms are considered to be the most important candidate genes for genetic predisposition to human athletic performance. In the present study, we aimed to analyze the distribution of ACE and ACTN3 polymorphisms for the first time in male Turkish soccer players. In this prospective study, our cohort consisted of 25 professional players, all with Turkish ancestry. Polymerase chain reaction (PCR)-restriction length polymorphism was used for the characterization of the genotype of ACTN3 and single PCR for ACE. For ACE genotype, 16%, 44%, and 40% of the players had insertion/insertion (II), insertion/deletion (ID), and deletion/deletion (DD) genotypes, respectively, whereas 20% had XX, 36% had RX, and 44% had RR genotypes for ACTN3. When we examined the allelic percentages, for ACE, D allele was recorded as 62 and I as 38, and for ACTN3, R allele was 62 and X was 38. Our results were in agreement with the previous reports, indicating the presence of ACTN3 D and ACE X allele in soccer players. We suggest that ACE and ACTN3 genotypes are important biomarkers for genetic counseling for the individuals who are prone to be successful soccer players.

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“…Ova motorička sposobnost je u vezi sa ά-aktin izomorfom (ACTN3), koji je karakterističan za II tip brzo kontraktilnih mišićnih vlakana.ACTN3 je aktin-vezujući protein koji je dio Z linije sarkoma; on pomaže u organizovanju i održavanju kontraktilnog aparata i uređenju miofibrila (Macêdo i Fernandes-Filho, 2003;Mills i saradnici, 2001;North i saradnici, 1999;Holdys, Kryściak, Stanisławski, & Gronek, 2011;Papadimitriou, Papadopoulos, Kouvatsi, & Triantaphyllidis, 2008).…”

Section: Uvodunclassified

Učestalost Anaerobne Moći Kod Brazilaca Na Osnovu Dermatoglifike I R577x Polimorfizima Actn3 Proteina

Paz¹,

Montenegro²,

Barbosa³

et al. 2013

sgai

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SAŽETAKDermatoglifika i analize Alfa-aktin gena su evluativni instrumenti koji se često koriste za selekciju sportista i uopšte populacije u odnosu na motoričke vještine. Ovo istraživanje imalo je za cilj da utvrdi, na osnovu dermatoglifskih karakteristika i R577X polimorfizma Alfa-aktina, procenat ljudi u saveznoj brazilskoj državi Paraiba sa nepovoljnim sposobnostima za sportove koje karakterišu anaerobne sposobnosti. Izvršena je deskriptivna studija profila sa eks post fakto tipologijom. Identifikovani su dermatoglifski otisci prstiju 309 osoba (149 muškaraca i 160 žena), a ACTN3 genotip je analiziran na njih 96 (40 muškaraca i 56 žena). Dermatoglifski podaci pokazuju da 5,8% populacije obuhvaćene istraživanjem odgovara anaerobnim predispozicijima mišićne moći, dok 94,2% nema te sposobnosti. Genetička analiza frekvencija ukazala je na činjenicu da su 19,8% ispitanika imali XX mutan genotip. Ovi rezultati predstavljaju značajano smanjenje greške u izboru sportista za potencijalno vrhunske rezultate pogotovu u onim sportovima koji zahtijevaju AMP.. UVODPotraga za sportskim talentim je fenomen koji neprestano raste i sa sobom donosi i dragocjena potencijalna ulaganja u vrhunski sport. Shodno tome, korišćenje adekvatnih specifičnih instrumenata je osnova za identifikovanje perspektivnih sportista. Ti instrumenti pomažu da se smanji mogućnost greške i preveliki finansijski rashodi tako što se povećava broj sportista koji mogu da dosegnu visoke sposobnosti u različitim sportovima (Kansal, 2010).Jedna od metoda koja se koristi za procjenu sportista koji posjeduju visoke sposobnosti je dermatoglifika, pristup koji obuhvata analizu uzoraka kožnih papila koji vode porijeklo iz neurovaskularnih regija.Ti regioni se formiraju još u materici i ostaju nepromjenjeni tokom cijelog života. Ova vrsta analize potvrdila je jake veze između dermatglifskih karakteristika i pojedinih motoričkih sposobnosti, a uz to je i vrlo jeftina i visoko efikasna (Abramova, Nikitina i Ozolin, 1996; Junior, Cunha, Scheneider i Dantas, 2006; Kücken i Newell, 2005; Zary i Fernandes-Filho, 2007; Zary i saradnici, 2010).Nepromjenljivost otisaka prstiju omogućava analizu njihove konfiguracije od djetinjstva, tako da je to korisno sredstvo za identifikovanje i obuku talentovanih pojedinaca na svim nivoima ljudskog razvoja, od početničkog do vrhunskog sportskog nivoa

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POLYMORPHISM OF THE Α-Actn3 GENE IN INDIVIDUALS PRACTISING DIFFERENT SPORTS DISCIPLINES

Cited by 19 publications

References 11 publications

Preliminary Findings of α-Actinin-3 Gene Distribution in Elite Turkish Wind Surfers

Preliminary Findings of α-Actinin-3 Gene Distribution in Elite Turkish Wind Surfers

Distribution of Angiotensin-1 Converting Enzyme Insertion/Deletion and α-Actinin-3 Codon 577 Polymorphisms in Turkish Male Soccer Players

Učestalost Anaerobne Moći Kod Brazilaca Na Osnovu Dermatoglifike I R577x Polimorfizima Actn3 Proteina

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