Download Genetics in Sports

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.
Actin
Myosin
The Human Gene Map
for 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.
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.
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The leg muscles of mice treated with
IGF-1 (right) are bigger than the leg muscles
of untreated mice (left).
= Peroxisome proliferators-activated receptor
• Run twice as far as normal mice
• Run 1 hour longer than the average 90 minutes a normal
mouse
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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
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.
World record time women’s marathon
Since 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
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Genes
Effects : Training
G x E interaction
G and E correlation
Genetic Engineering
Gene Therapy
Gene Transfer
Gene Doping
Genetic Engineering
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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
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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
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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
World
AntiDoping
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 cuttingedge 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.