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How genes effects How genes effects Physical Performance ?Physical Performance ?
Phenotypes and GenotypesPhenotypes and Genotypes
Giro vite
Specific genes Specific genes and Physical Performancesand Physical Performances
An International Centre for East African Running Science (ICEARS)
Established in Glasgow
Preliminary findingsPreliminary 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 ActininACTN3 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 MapThe Human Gene Map for Performance and for Performance and
Health-Related Fitness Health-Related Fitness Phenotypes: 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.
The lean, “double-muscled ” Belgian Blue Bull breed
a Mutated form of the Myostatin gene (Sweeney, 2004)
Repair of Muscle InjuriesRepair 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 The leg muscles of mice treated with IGF-1 (right) are bigger than the with IGF-1 (right) are bigger than the
leg muscles of untreated mice (left).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 Run 1 hour longer than the average 90 minutes a normal mouse normal mouse
• Increase - slow - twitch muscle fibersIncrease - slow - twitch muscle fibers
• Decrease - fast - twitch fibersDecrease - fast - twitch fibers
• Increase in fat burning in adipose tissues Increase in fat burning in adipose tissues
• Gene Gene PPAR-Delta PPAR-Delta regulates the expression of several regulates the expression of several other genes and ultimately enhances “slow-twitch” other genes and ultimately enhances “slow-twitch” muscle fibersmuscle fibers
= Peroxisome proliferators-activated receptor
Does GeneDoes Genethe only effect onthe only effect on
Physical Performance ?Physical Performance ?
Usian Bolt among Jamaican Usian Bolt among Jamaican athletesathletes
• 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 kindof 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.
World record time women’s marathonSince 1960: Decreased more than 1 hrSince 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 ChampionMaking of a Champion
• GenesGenes
• Effects : TrainingEffects : Training
• G x E interactionG x E interaction
• G and E correlationG and E correlation
Genetic EngineeringGenetic EngineeringGene TherapyGene TherapyGene TransferGene TransferGene DopingGene Doping
Genetic EngineeringGenetic 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 TherapyGene Therapy
• Introduction of a normal Introduction of a normal gene into an individual’s gene into an individual’s genome in order to repair genome in order to repair a mutation that causes a a mutation that causes a genetic disease .genetic disease .
• Technique is Gene Technique is Gene transfer.transfer.
• 2 Ways of Therapy2 Ways of Therapy– In Vivo In Vivo – Ex VivoEx Vivo
Risk & Complications: Gene Risk & Complications: Gene DopingDoping
• 1999: Jesse Gelsinger (18) died from 1999: Jesse Gelsinger (18) died from immune response to the virus immune response to the virus vector.vector.
• X-linked hemophilia patients with X-linked hemophilia patients with gene therapy developed leukemia.gene therapy developed leukemia.
• Gene EPO in monkey make blood Gene EPO in monkey make blood thrombosed and Anemia in some thrombosed and Anemia in some (immune attacked EPO)(immune attacked EPO)
• Virus vector can infect other human Virus vector can infect other human (viral shedding)(viral shedding)
• Improper used of Gene , like Improper used of Gene , like improper use of anabolic steroidimproper use of anabolic steroid
World World Anti-Anti-
Doping Doping Agency:Agency:
WADA WADA
Tests to detect Gene Tests to detect Gene Doping :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, Gene can be engineering, transferring , curing and doping ? transferring , curing and doping ?
• Researches are ongoing and some Researches are ongoing and some inappropriate ones may be inappropriate ones may be unnoticed.unnoticed.
• Gene test should be only for an adult Gene test should be only for an adult for his or her own merit.for his or her own merit.
• Confidential only to the test Confidential only to the test participant is crucial.participant is crucial.
• Gene doping and research for gene Gene doping and research for gene doping should be banned.doping should be banned.