Giro vite Phenotypes and Genotypes
An International Centre for East African Running Science (ICEARS) Established in Glasgow • Preliminary findings • 70 % Jamaicans habitants have the ACTN3 gene version that produceActinin-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 • ACTNGene • encode forming of actin binding proteins = Actinins • Actinins • stabilize Actin filaments = stronger contractions • Two main types of • ACTN gene: ACTN2 and ACTN3Actinins:type 2 and 3 • ACTN2 is expressed in • all muscle fibers • ACTN3 is only in • fasttwitch fibers.
The Human Gene Mapfor Performance and Health-Related Fitness Phenotypes: The 2006-2007 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.
Insulin-like Growth Factor ( IGF-1 ) and Myostatin 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).
"Marathon Mouse 2004" • Run twice as far as normal mice • Run 1 hour longer than the average 90 minutes a normal mouse • Increase - slow - twitch muscle fibers • Decrease - fast - twitch fibers • 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 = Peroxisome proliferators-activated receptor
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.
World record time women’s marathonSince 1960: Decreased more than 1 hr 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.
Elite athletes are those who respond in extraordinary ways to training in order to unlock an already present potential.
Making of a Champion Genes Effects : Training G x E interaction G and E correlation
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 . • Technique is Gene transfer. • 2 Ways of Therapy • In Vivo • Ex Vivo
Risk & Complications: Gene Doping • 1999: Jesse Gelsinger (18) died from immune response to the virus vector. • X-linked hemophilia patients with gene therapy developed leukemia. • Gene EPO in monkey make blood thrombosed and Anemia in some (immune attacked EPO) • Virus vector can infect other human (viral shedding) • Improper used of Gene , like improper use of anabolic steroid
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 ? • Researches are ongoing and some inappropriate ones may be unnoticed. • Gene test should be only for an adult for his or her own merit. • Confidential only to the test participant is crucial. • Gene doping and research for gene doping should be banned.