Broos, Siacia
Malisoux, Laurent
Theisen, Daniel
Francaux, Marc
[UCL]
Deldicque, Louise
Thomis, Martine A
A common nonsense polymorphism in the ACTN3 gene results in the absence of α-actinin-3 in XX individuals. The wild type allele has been associated with power athlete status and an increased force output in numeral studies, though the mechanisms by which these effects occur are unclear. Recent findings in the Actn3(-/-) (KO) mouse suggest a shift towards 'slow' metabolic and contractile characteristics of fast muscle fibers lacking α-actinin-3. Skinned single fibers from the quadriceps muscle of three men with spinal cord injury (SCI) were tested regarding peak force, unloaded shortening velocity, force-velocity relationship, passive tension and calcium sensitivity. The SCI condition induces an 'equal environment condition' what makes these subjects ideal to study the role of α-actinin-3 on fiber type expression and single muscle fiber contractile properties. Genotyping for ACTN3 revealed that the three subjects were XX, RX and RR carriers, respectively. The XX carrier's biopsy was the only one that presented type I fibers with a complete lack of type II(x) fibers. Properties of hybrid type II(a)/II(x) fibers were compared between the three subjects. Absence of α-actinin-3 resulted in less stiff type II(a)/II(x) fibers. The heterozygote (RX) exhibited the highest fiber diameter (0.121±0.005 mm) and CSA (0.012±0.001 mm(2)) and, as a consequence, the highest peak force (2.11±0.14 mN). Normalized peak force was similar in all three subjects (P = 0.75). Unloaded shortening velocity was highest in R-allele carriers (P<0.001). No difference was found in calcium sensitivity. The preservation of type I fibers and the absence of type II(x) fibers in the XX individual indicate a restricted transformation of the muscle fiber composition to type II fibers in response to long-term muscle disuse. Lack of α-actinin-3 may decrease unloaded shortening velocity and increase fiber elasticity.
- Huygens Wim, Thomis Martine A., Peeters Maarten W., Vlietinck Robert F., Beunen Gaston P., Determinants and Upper-Limit Heritabilities of Skeletal Muscle Mass and Strength, 10.1139/h04-014
- North Kathryn N., Yang Nan, Wattanasirichaigoon Duangrurdee, Mills Michelle, Easteal Simon, Beggs Alan H., 10.1038/7675
- AH Beggs, J Biol Chem, 267, 9281 (1992)
- Druzhevskaya Anastasiya M., Ahmetov Ildus I., Astratenkova Irina V., Rogozkin Viktor A., Association of the ACTN3 R577X polymorphism with power athlete status in Russians, 10.1007/s00421-008-0763-1
- Yang Nan, MacArthur Daniel G., Gulbin Jason P., Hahn Allan G., Beggs Alan H., Easteal Simon, North Kathryn, ACTN3 Genotype Is Associated with Human Elite Athletic Performance, 10.1086/377590
- Roth Stephen M, Walsh Sean, Liu Dongmei, Metter E Jeffrey, Ferrucci Luigi, Slavotinek Anne M, The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes, 10.1038/sj.ejhg.5201964
- Maciejewska Agnieszka, Sawczuk Marek, Cięszczyk Paweł, Variation in the PPARα gene in Polish rowers, 10.1016/j.jsams.2010.05.006
- Vincent B., De Bock K., Ramaekers M., Van den Eede E., Van Leemputte M., Hespel P., Thomis M. A., ACTN3 (R577X) genotype is associated with fiber type distribution, 10.1152/physiolgenomics.00173.2007
- Moran Colin N, Yang Nan, Bailey Mark E S, Tsiokanos Athanasios, Jamurtas Athanasios, MacArthur Daniel G, North Kathryn, Pitsiladis Yannis P, Wilson Richard H, Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks, 10.1038/sj.ejhg.5201724
- Clarkson P. M., ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women, 10.1152/japplphysiol.01139.2004
- Alfred Tamuno, Ben-Shlomo Yoav, Cooper Rachel, Hardy Rebecca, Cooper Cyrus, Deary Ian J., Gunnell David, Harris Sarah E., Kumari Meena, Martin Richard M., Moran Colin N., Pitsiladis Yannis P., Ring Susan M., Sayer Avan Aihie, Smith George Davey, Starr John M., Kuh Diana, Day Ian N.M., , ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies, 10.1002/humu.21526
- MacArthur Daniel G, Seto Jane T, Raftery Joanna M, Quinlan Kate G, Huttley Gavin A, Hook Jeff W, Lemckert Frances A, Kee Anthony J, Edwards Michael R, Berman Yemima, Hardeman Edna C, Gunning Peter W, Easteal Simon, Yang Nan, North Kathryn N, Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans, 10.1038/ng2122
- MacArthur D. G., Seto J. T., Chan S., Quinlan K. G.R., Raftery J. M., Turner N., Nicholson M. D., Kee A. J., Hardeman E. C., Gunning P. W., Cooney G. J., Head S. I., Yang N., North K. N., An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performance, 10.1093/hmg/ddm380
- Chan S., Seto J. T., MacArthur D. G., Yang N., North K. N., Head S. I., A gene for speed: contractile properties of isolated whole EDL muscle from an -actinin-3 knockout mouse, 10.1152/ajpcell.00179.2008
- Chan Stephen, Seto Jane T., Houweling Peter J., Yang Nan, North Kathryn N., Head Stewart I., Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and femaleActn3knockout mice : Properties ofActn3KO Muscle, 10.1002/mus.21778
- Vincent B., Windelinckx A., Van Proeyen K., Masschelein E., Nielens H., Ramaekers M., Van Leemputte M., Hespel P., Thomis M., Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibres : ACTN3and oxidative capacity, 10.1111/j.1748-1716.2011.02366.x
- Biering-Sørensen Bo, Kristensen Ida Bruun, Kjaer Michael, Biering-Sørensen Fin, Muscle after spinal cord injury, 10.1002/mus.21391
- Burnham R, Martin T, Stein R, Bell G, MacLean I, Steadward R, Skeletal muscle fibre type transformation following spinal cord injury, 10.1038/sj.sc.3100364
- Thomas Christine K., Contractile properties of human Thenar muscles paralyzed by spinal cord injury, 10.1002/(sici)1097-4598(199707)20:7<788::aid-mus2>3.0.co;2-3
- Gerrits Karin H., Maganaris Constantinos N., Reeves Neil D., Sargeant Anthony J., Jones David A., de Haan Arnold, Influence of knee joint angle on muscle properties of paralyzed and nonparalyzed human knee extensors, 10.1002/mus.20328
- Gerrits H.L., De Haan A., Hopman M.T.E., van Der Woude L.H.V., Jones D.A., Sargeant A.J., Contractile properties of the quadriceps muscle in individuals with spinal cord injury, 10.1002/(sici)1097-4598(199909)22:9<1249::aid-mus13>3.0.co;2-n
- Vincent B., Windelinckx A., Nielens H., Ramaekers M., Van Leemputte M., Hespel P., Thomis M. A., Protective role of -actinin-3 in the response to an acute eccentric exercise bout, 10.1152/japplphysiol.01007.2009
- Seto Jane T., Lek Monkol, Quinlan Kate G.R., Houweling Peter J., Zheng Xi F., Garton Fleur, MacArthur Daniel G., Raftery Joanna M., Garvey Sean M., Hauser Michael A., Yang Nan, Head Stewart I., North Kathryn N., Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling, 10.1093/hmg/ddr196
- MALISOUX LAURENT, FRANCAUX MARC, NIELENS HENRI, RENARD PATRICIA, LEBACQ JEAN, THEISEN DANIEL, Calcium Sensitivity of Human Single Muscle Fibers following Plyometric Training : , 10.1249/01.mss.0000232022.21361.47
- Malisoux L., Jamart C., Delplace K., Nielens H., Francaux M., Theisen D., Effect of long-term muscle paralysis on human single fiber mechanics, 10.1152/japplphysiol.00609.2006
- Bamman Marcas M., Clarke Mark S. F., Talmadge Robert J., Feeback Daniel L., Enhanced protein electrophoresis technique for separating human skeletal muscle myosin heavy chain isoforms, 10.1002/(sici)1522-2683(19990301)20:3<466::aid-elps466>3.0.co;2-7
- Giulian Gary G., Moss Richard L., Greaser Marion, Improved methodology for analysis and quantitation of proteins on one-dimensional silver-stained slab gels, 10.1016/0003-2697(83)90551-1
- Horowits Robert, Kempner Ellis S., Bisher Margaret E., Podolsky Richard J., A physiological role for titin and nebulin in skeletal muscle, 10.1038/323160a0
- L Tskhovrebova, J Appl Physiol, 92, 1465 (2002)
- Neagoe Ciprian, Opitz Christiane A., Makarenko Irina, Linke Wolfgang A., 10.1023/a:1026053530766
- Prado Lucas G., Makarenko Irina, Andresen Christian, Krüger Martina, Opitz Christiane A., Linke Wolfgang A., Isoform Diversity of Giant Proteins in Relation to Passive and Active Contractile Properties of Rabbit Skeletal Muscles, 10.1085/jgp.200509364
- Labeit S., Kolmerer B., Titins: Giant Proteins in Charge of Muscle Ultrastructure and Elasticity, 10.1126/science.270.5234.293
- Toursel Thierry, Stevens Laurence, Granzier Henk, Mounier Yvonne, Passive tension of rat skeletal soleus muscle fibers: effects of unloading conditions, 10.1152/japplphysiol.00621.2001
- Collinsworth A. M., Zhang S., Kraus W. E., Truskey G. A., Apparent elastic modulus and hysteresis of skeletal muscle cells throughout differentiation, 10.1152/ajpcell.00502.2001
- LIEBER R. L., FRIDÉN J., Selective damage of fast glycolytic muscle fibres with eccentric contraction of the rabbit tibialis anterior, 10.1111/j.1748-1716.1988.tb08446.x
- Zempo H., Tanabe K., Murakami H., Iemitsu M., Maeda S., Kuno S., ACTN3Polymorphism Affects Thigh Muscle Area, 10.1055/s-0029-1242808
- Berman Y., North K. N., A Gene for Speed: The Emerging Role of -Actinin-3 in Muscle Metabolism, 10.1152/physiol.00008.2010
- Gerrits H. L., Hopman M. T. E., Offringa C., van Engelen B. G. M., Sargeant A. J., Jones D. A., de Haan A., Variability in fibre properties in paralysed human quadriceps muscles and effects of training, 10.1007/s00424-002-0997-4
Bibliographic reference |
Broos, Siacia ; Malisoux, Laurent ; Theisen, Daniel ; Francaux, Marc ; Deldicque, Louise ; et. al. Role of alpha-actinin-3 in contractile properties of human single muscle fibers: a case series study in paraplegics.. In: PLoS One, Vol. 7, no.11, p. e49281 (2012) |
Permanent URL |
http://hdl.handle.net/2078.1/144004 |