How genes effects Physical Performance ?

Phenotypes and Genotypes Giro vite

Specific genes and Physical Performances

An International Centre for East African Running Science (ICEARS) Established in Glasgow Preliminary findings 70 % Jamaicans habitants have the ACTN3 gene version that produce Actinin-3 protein 28 % of Jamaicans are heterozygous for ACTN3 gene, which has the same effect but to a lesser degree. The rest have the “null” form of the gene that produces no protein at all. Australians: only 30 % per cent were found with the speed protein Actinin-3 At least one billion people worldwide must be completely deficient in Actinin-3

ACTN3 Gene and Actinin ACTN Gene encode forming of actin binding proteins = Actinins Actinins stabilize Actin filaments = stronger contractions Two main types of ACTN gene: ACTN2 and ACTN3 Actinins: type 2 and 3 ACTN2 is expressed in all muscle fibers ACTN3 is only in fast twitch fibers.

Myosin Actin

The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The Update The fitness and performance map now includes 214 autosomal gene entries and quantitative trait loci plus seven others on the X chromosome. There are 18 mitochondrial genes that have been shown to influence fitness and performance phenotypes.

The lean, “double-muscled ” Belgian Blue Bull breed a Mutated form of the Myostatin gene (Sweeney, 2004)

Repair of Muscle Injuries Satellite cells proliferate around the wounded fiber to help the repair process IGF-1 partly controls the building and repair of muscles by stimulating the proliferation of satellite cells. Myostatin has the opposite effect, halting the proliferation of satellite cells.

The leg muscles of mice treated with IGF-1 (right) are bigger than the leg muscles of untreated mice (left).

Run twice as far as normal mice Run twice as far as normal mice Run 1 hour longer than the average 90 minutes a normal mouse Run 1 hour longer than the average 90 minutes a normal mouse Increase - slow - twitch muscle fibers Increase - slow - twitch muscle fibers Decrease - fast - twitch fibers Decrease - fast - twitch fibers Increase in fat burning in adipose tissues Increase in fat burning in adipose tissues Gene PPAR-Delta regulates the expression of several other genes and ultimately enhances “slow-twitch” muscle fibers Gene PPAR-Delta regulates the expression of several other genes and ultimately enhances “slow-twitch” muscle fibers = Peroxisome proliferators-activated receptor

Does Gene the only effect on Physical Performance ?

Usian Bolt among Jamaican athletes Usain Bolt – –lined up against athletes who almost certainly all express Actinin-3 – –it can’t possibly explain the astonishing advantage he has over his competitors. There must be other factors at work.

Elite athletes may be born with a favorable genetic, but to realize athletic potential requires years of focused training. Training is itself a kind of self-imposed environmental exposure, and when gifted athletes train this could be considered an example of gene–environment correlation. The effects of training on performance variation can be dramatic. Since 1960: Decreased more than 1 hr World record time women’s marathon Since 1960: Decreased more than 1 hr

Elite athletes are those who respond in extraordinary ways to training in order to unlock an already present potential.

Making of a Champion Making of a Champion Genes Genes Effects : Training Effects : Training G x E interaction G x E interaction G and E correlation G and E correlation

Genetic Engineering Gene Therapy Gene Transfer Gene Doping

Genetic Engineering Process has five main steps: 1. Isolation of the gene of interest 2. Insertion of the gene into a transfer vector, or carrier (e.g. virus, bacteries) 3. Transfer of the vector/carrier to the organismto be modified 4. Transformation of the cells of the organism (e.g. virus multiplies) 5. Separation of the genetically modified organism from those that have not been successfully modified

Gene Therapy Introduction of a normal gene into an individual’s genome in order to repair a mutation that causes a genetic disease. Introduction of a normal gene into an individual’s genome in order to repair a mutation that causes a genetic disease. gene genome mutation genetic disease gene genome mutation genetic disease Technique is Gene transfer. Technique is Gene transfer. 2 Ways of Therapy 2 Ways of Therapy –In Vivo –Ex Vivo

Risk & Complications: Gene Doping 1999: Jesse Gelsinger (18) died from immune response to the virus vector. 1999: Jesse Gelsinger (18) died from immune response to the virus vector. X-linked hemophilia patients with gene therapy developed leukemia. X-linked hemophilia patients with gene therapy developed leukemia. Gene EPO in monkey make blood thrombosed and Anemia in some (immune attacked EPO) Gene EPO in monkey make blood thrombosed and Anemia in some (immune attacked EPO) Virus vector can infect other human (viral shedding) Virus vector can infect other human (viral shedding) Improper used of Gene, like improper use of anabolic steroid Improper used of Gene, like improper use of anabolic steroid

World Anti- Doping Agency: WADA

Tests to detect Gene Doping : A biopsy of suspected muscle tissue Suspicious elevations key biologic substances that indicate gene doping by serial monitoring of blood parameters. Detect abnormal gene activity: uses cutting- edge microchip gene array technology or nanotechnology breakthroughs A ‘‘protein fingerprint’’ or a ‘‘genetic map’’ of the biochemistry of individual athletes Genetic barcodes

Gene can be engineering, transferring, curing and doping ? Gene can be engineering, transferring, curing and doping ? Researches are ongoing and some inappropriate ones may be unnoticed. Researches are ongoing and some inappropriate ones may be unnoticed. Gene test should be only for an adult for his or her own merit. Gene test should be only for an adult for his or her own merit. Confidential only to the test participant is crucial. Confidential only to the test participant is crucial. Gene doping and research for gene doping should be banned. Gene doping and research for gene doping should be banned.