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Genomics, transcriptomics,
proteomics, metabolomics, and
exercise
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Ex Biochem c9-genetics
Genomics 基因體學
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Ex Biochem c9-genetics
Familial aggregation of VO2max
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Ex Biochem c9-genetics
Design of genetic studies -1
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Design of genetic studies -2
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Ex Biochem c9-genetics
Performance/fitness phenotypes
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Fast growing after completion of Human
Genome Project
>170 genes associated with performance or
health-related fitness in 2006
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Only 29 in 2001
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Ex Biochem c9-genetics
Genes may affect performance, fitness
Rankinen T, MSSE, 2006
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DNA microarray 微陣列,
gene chip 基因晶片
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Ex Biochem c9-genetics
Specific nucleotide base pairing
1 small chip can contain thousands of spots
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Ex Biochem c9-genetics
ACE and endurance performance
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Angiotension-converting enzyme
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Effect of genotypes on VO2max inconsistent
Greater muscle efficiency in I/I compated to D/D
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Angiotensinogen  angiotensin II, vacoconstrictor
287 nucleotide insertion/deletion polymorphism
Efficiency: Work performed per unit energy expenditure
No association at baseline: potential gene x environment
interaction
Trainability
D allele: ↑muscle growth?
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Ex Biochem c9-genetics
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Ex Biochem c9-genetics
ACE polymorphism in Olympic runners
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ACTN3 and muscle performance
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Alpha-actinin 3
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In patients with several muscular disorders: X/X
genotype complete absence of ACTN3 protein
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R577X (arginine  stop codon at codon 577)
X-allele frequency 25-50% in different populations
Only by chance, ACTN deficiency not deleterious
because its function can be compensated by ACTN2
X/X reduce performance in sprint or power-related
sports
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Ex Biochem c9-genetics
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Ex Biochem c9-genetics
Myostatin and muscle mass
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Disabled myostatin gene increase muscle
size
Mutation rare in humans
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Myostatin mutations
in animals
Ex Biochem c9-genetics
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Ex Biochem c9-genetics
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Molecular scouting?
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Exercise is a very complicated physiological
function
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May involve more than 1 gene
> 100 genes turn on/off after a single bout of exercise
Need to look for combination of genes
Current techniques available
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Gene chips, computer aided
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Ex Biochem c9-genetics
Gene polymorphism in power athletes
Ruiz et al, 2010
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Ex Biochem c9-genetics
Gene polymorphism in power athletes
Ruiz et al, 2010
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Ex Biochem c9-genetics
Gene therapy and gene doping
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Gene therapy successfully used in several clinical
conditions
Somatic cell gene therapy
Germ cell gene therapy
Gene doping: possible and may already being used
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2006, a German coach asked for Repoxygen, a virusbased gene therapy product designed to deliver human
EPO gene to muscle cells
Originally used to treat severe anemia, successful in
treating mice
Almost impossible to detect
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Tissue sampling, DNA sequence
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轉錄體學
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Proteomics 蛋白質體學
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Analytical and functional
protein microarray
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Ex Biochem c9-genetics
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a, Analytical protein microarray. Different types of ligands
are spotted
b, Functional protein microarray. Native proteins or peptides
are arrayed onto a suitable surface
http://www.nature.com/nature/journal/v422/n6928/fig_t
ab/nature01512_F1.html
Ex Biochem c9-genetics
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Metabolomics 代謝體學
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Changes of
metabolites
Separated then
identified by mass
spectrometry (MS
質譜儀) or nuclear
magnetic
resonance (NMR
核磁共振)
Lewis, 2010
Ex Biochem c9-genetics
Enea, 2010
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