Genetikle ilgilenen araştırmacılar, kronik ve metabolik hastalıklara neden olan mutasyon noktaları ve kalıtımla aktarılan davranışlarla ilgili önemli bilgileri sağlayacak insan genomu detaylarını ortaya çıkarmayı başardılar. Araştırmacıların insan genom haritasının tanımlanması ile birlikte nükleotid dizilimlerinin bireyler arasında farklı oranlarda değişim gösterdiği ve bahse konu soyaçekimden kaynaklı değişimlerin metabolik ya da kronik hastalıkların oluşumunda rol oynayıp oynamadığını analiz etmelerini de oldukça kolaylaştıracaktır. Araştırmacılar, insan genom projesinin tamamlanmasından hemen önce yağ dokularından salınan yağ asidi bağlayıcı protein 4 (FABP4) ve insülin direncini etkileyen fabkin hormonunu keşfetmişlerdir. Fabkin hormon kompleksinin metabolizma üzerindeki etkileri genetik yöntemlerle veya ilaç kullanımıyla düşürüldüğünde hem Tip 1 hem de Tip 2 diyabetli farelerde hastalığın yok olabileceği, insan beta hücreleri üzerinde de gözlemlenen benzer değişimin diyabet için çok umut verici bir tedavi yöntemi olabileceği öngörülmektedir. Araştırmacılar FABP4 proteininin adipositlerde depolanan yağların açlığa tepki olarak parçalandığı esnada salgılandığını, kandaki FABP4 düzeylerinin de obezite, diyabet, kardiyovasküler hastalık ve kanser dâhil olmak üzere birçok hastalıkla ilişkisinin olduğunu tespit etmişlerdir. Spor bilimciler ve antrenörler uzun yıllar süren deneyimlerine ve gözlemlerine dayanarak fiziksel performans gelişiminde bireyler arasında dikkate değer farklılaşmalar olduğunu, egzersiz yüklenmelerinin kişiye özel davranış değişikliklerini tetikleyerek performans ve sağlıklı bir metabolizmanın gelişimine önemli katkılar sağladığını gözlemlemişlerdir. İnsan metabolizması birçok farklı sistemin ve bu sistemlerin işleyişindeki farklılıkların bileşiminden etkilenmektedir. Yakın zamanlarda yapılan araştırmalar neticesinde genetik dizilimlerdeki bireysel farklılıkların antrenman yüklenmelerine verilen yanıtları, ergojenik desteklerin etkinliğini, toparlanma hızını, kalori ihtiyacı ve sakatlanma riskini etkileyebildiğini, ayrıca söz konusu araştırmalardan elde edilen bulguların metabolik hastalıkların önlenmesi ve tedavisinde uygulanabilecek fiziksel aktivite uygulama yöntemlerine ilişkin daha güçlü bir temel sağlayabileceği de öngörülmektedir.
Anahtar Kelimeler: Metabolik hastalıklar; fabkin; atletik performans
Researchers in genetics have succeeded in uncovering details of the human genome that will provide important information about mutation points and inherited behaviors that cause chronic and metabolic diseases. With the identification of the human genome map, it will also make it very easy for researchers to analyze whether nucleotide sequences vary at different rates between individuals and whether the changes due to heredity play a role in the formation of metabolic or chronic diseases. Just before the completion of the human genome project, researchers discovered fatty acid binding protein 4 (FABP4), which is released from adipose tissues, and the hormone fabkin, which affects insulin resistance. When the effects of the fabkin hormone complex on metabolism are reduced by genetic methods or the use of drugs, it is predicted that the disease may disappear in both Type 1 and Type 2 diabetes mice, and the similar change observed on human beta cells may be a very promising treatment method for diabetes. Researchers have determined that the FABP4 protein is secreted during the breakdown of fat stored in adipocytes in response to hunger, and that FABP4 levels in the blood are associated with many diseases, including obesity, diabetes, cardiovascular disease and cancer. Based on their long years of experience and observations, sports scientists and trainers have observed that there are significant differences between individuals in the development of physical performance, and that exercise loads contribute significantly to the development of performance and a healthy metabolism by triggering individual behavioral changes. Human metabolism is affected by the combination of many different systems and the differences in the functioning of these systems. As a result of recent studies, individual differences in genetic sequences can affect the responses given to training loads, the effectiveness of ergogenic supports, recovery speed, calorie requirement and injury risk, it is also envisaged that the findings obtained from these studies may provide a stronger basis for physical activity practice methods that can be applied in the prevention and treatment of metabolic diseases.
Keywords: Metabolic diseases; fabkin; athletic performance
- Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, et al. The complete sequence of a human genome. Science. 2022;376(6588):44-53. [PubMed] [PMC]
- Prentice KJ, Saksi J, Hotamisligil GS. Adipokine FABP4 integrates energy stores and counterregulatory metabolic responses. J Lipid Res. 2019;60(4):734-40. [Crossref] [PubMed] [PMC]
- Prentice KJ, Saksi J, Robertson LT, Lee GY, Inouye KE, Eguchi K, et al. A hormone complex of FABP4 and nucleoside kinases regulates islet function. Nature. 2021;600(7890):720-6. [Crossref] [PubMed] [PMC]
- Wackerhage H, Miah A, Harris RC, Montgomery HE, Williams AG. Genetic research and testing in sport and exercise science: a review of the issues. J Sports Sci. 2009;27(11):1109-16. [Crossref] [PubMed]
- Cerit M, Colakoglu M, Erdogan M, Berdeli A, Cam FS. Relationship between ace genotype and short duration aerobic performance development. Eur J Appl Physiol. 2006;98(5):461-5. [Crossref] [PubMed]
- Montgomery HE, Marshall R, Hemingway H, Myerson S, Clarkson P, Dollery C, et al. Human gene for physical performance. Nature. 1998;393(6682):221-2. [Crossref] [PubMed]
- Cerit M. İnsan metabolizmasının bilinmeyenleri. Yöyen Ermiş D, editör. Genetik ve Atletik Performans. 1. Baskı. Ankara: Spor Yayınevi ve Kitapevi; 2021. p.26.
- Hughes DC, Day SH, Ahmetov II, Williams AG. Genetics of muscle strength and power: polygenic profile similarity limits skeletal muscle performance. J Sports Sci. 2011;29(13):1425-34. [Crossref] [PubMed]
- Bouchard C, An P, Rice T, Skinner JS, Wilmore JH, Gagnon J, et al. Familial aggregation of VO(2max) response to exercise training: results from the HERITAGE Family Study. J Appl Physiol (1985). 1999;87(3):1003-8. [Crossref] [PubMed]
- Papadimitriou ID, Lucia A, Pitsiladis YP, Pushkarev VP, Dyatlov DA, Orekhov EF, et al. ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics. 2016;17:285. [Crossref] [PubMed] [PMC]
- Cerit M. Hypothetical approach to the location of genotypes (ACE & ACTN3) associated with energy systems for the athletic performance. Spor Bilimleri Araştırmaları Dergisi. 2018;3(1):97-105. [Crossref]
- Zhao W, Rasheed A, Tikkanen E, Lee JJ, Butterworth AS, Howson JMM, et al. Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. Nat Genet. 2017;49(10):1450-7. [Crossref] [PubMed] [PMC]
- Aleksandra Z, Zbigniew J, Waldemar M, Agata LD, Mariusz K, Marek S, et al. The AGT Gene M235T polymorphism and response of power-related variables to aerobic training. J Sports Sci Med. 2016;15(4):616-24. [PubMed] [PMC]
- Guest N, Corey P, Vescovi J, El-Sohemy A. Caffeine, CYP1A2 genotype, and endurance performance in athletes. Med Sci Sports Exerc. 2018;50(8):1570-8. [Crossref] [PubMed]
- Heibel AB, Perim PHL, Oliveira LF, McNaughton LR, Saunders B. Time to optimize supplementation: modifying factors influencing the individual responses to extracellular buffering agents. Front Nutr. 2018;5:35. [Crossref] [PubMed] [PMC]
- Atkinson G, Batterham AM. True and false interindividual differences in the physiological response to an intervention. Exp Physiol. 2015;100(6):577-88. [Crossref] [PubMed]
- Mann TN, Lamberts RP, Lambert MI. High responders and low responders: factors associated with individual variation in response to standardized training. Sports Med. 2014;44(8):1113-24. [Crossref] [PubMed]
- Hubal MJ, Gordish-Dressman H, Thompson PD, Price TB, Hoffman EP, Angelopoulos TJ, et al. Variability in muscle size and strength gain after unilateral resistance training. Med Sci Sports Exerc. 2005;37(6):964-72. [PubMed]
- Bouchard TJ Jr. Genetic and environmental influences on adult intelligence and special mental abilities. Hum Biol. 1998;70(2):257-79. [PubMed]
- Karavirta L, Häkkinen K, Kauhanen A, Arija-Blázquez A, Sillanpää E, Rinkinen N, et al. Individual responses to combined endurance and strength training in older adults. Med Sci Sports Exerc. 2011;43(3):484-90. [Crossref] [PubMed]
- Hautala AJ, Kiviniemi AM, Mäkikallio TH, Kinnunen H, Nissilä S, Huikuri HV, et al. Individual differences in the responses to endurance and resistance training. Eur J Appl Physiol. 2006;96(5):535-42. [Crossref] [PubMed]
- Zempo H, Miyamoto-Mikami E, Kikuchi N, Fuku N, Miyachi M, Murakami H. Heritability estimates of muscle strength-related phenotypes: A systematic review and meta-analysis. Scand J Med Sci Sports. 2017;27(12):1537-46. [Crossref] [PubMed]
- Ahmetov II, Egorova ES, Gabdrakhmanova LJ, Fedotovskaya ON. Genes and athletic performance: an update. Med Sport Sci. 2016;61:41-54. [Crossref] [PubMed]
- Bray MS, Hagberg JM, Pérusse L, Rankinen T, Roth SM, Wolfarth B, et al. The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Med Sci Sports Exerc. 2009;41(1):35-73. [Crossref] [PubMed]
- Miah A. Genetically Modified Athletes: Biomedical Ethics, Gene Doping and Sport. 1st ed. New York: Routledge; 2004. [Crossref]
- Ross R, Gray CM, Gill JM. Effects of an injected placebo on endurance running performance. Med Sci Sports Exerc. 2015;47(8):1672-81. [Crossref] [PubMed]
- Ahmetov II, Donnikov AE, Trofimov DY. Actn3 genotype is associated with testosterone levels of athletes. Biol Sport. 2014;31(2):105-8. [PubMed] [PMC]
- Ahmetov II, Vinogradova OL, Williams AG. Gene polymorphisms and fiber-type composition of human skeletal muscle. Int J Sport Nutr Exerc Metab. 2012;22(4):292-303. [Crossref] [PubMed]
- Campos GE, Luecke TJ, Wendeln HK, Toma K, Hagerman FC, Murray TF, et al. Muscular adaptations in response to three different resistance-training regimens: specificity of repetition maximum training zones. Eur J Appl Physiol. 2002;88(1-2):50-60. [Crossref] [PubMed]
- Fry AC. The role of resistance exercise intensity on muscle fibre adaptations. Sports Med. 2004;34(10):663-79. [Crossref] [PubMed]
- Moraes VN, Trapé AA, Ferezin LP, Gonçalves TC, Monteiro CP, Junior CB. Association of ACE ID and ACTN3 C> T genetic polymorphisms with response to a multicomponent training program in physical performance in women from 50 to 70 years. Science Sports. 2018;33(5):282-90. [Crossref]
- Posthumus M, September AV, Keegan M, O'Cuinneagain D, Van der Merwe W, Schwellnus MP, et al. Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. Br J Sports Med. 2009;43(5):352-6. [Crossref] [PubMed]
- Posthumus M, September AV, Schwellnus MP, Collins M. Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. J Sci Med Sport. 2009;12(1):184-9. [Crossref] [PubMed]
- Posthumus M, September AV, O'Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M. The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. Am J Sports Med. 2009;37(11):2234-40. [Crossref] [PubMed]
- Brazier J, Antrobus M, Stebbings GK, Day SH, Heffernan SM, Cross MJ, et al. Tendon and ligament injuries in elite rugby: the potential genetic influence. Sports (Basel). 2019;7(6):138. [Crossref] [PubMed] [PMC]
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