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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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Ex Biochem c9-genetics
Design of genetic studies -2
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Ex Biochem c9-genetics
Performance/fitness phenotypes
Fast growing after completion of Human
Genome Project
>170 genes associated with performance or
health-related fitness in 2006
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
Ex Biochem c9-genetics
Specific nucleotide base pairing
1 small chip can contain thousands of spots
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ACE and endurance performance
Angiotension-converting enzyme
Effect of genotypes on VO2max inconsistent
Greater muscle efficiency in I/I compated to D/D
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
ACE polymorphism in Olympic runners
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Ex Biochem c9-genetics
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Ex Biochem c9-genetics
ACTN3 and muscle performance
Alpha-actinin 3
In patients with several muscular disorders: X/X
genotype complete absence of ACTN3 protein
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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Myostatin and muscle mass
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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Molecular scouting?
Exercise is a very complicated physiological
function
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
Gene chips, computer aided
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Gene polymorphism in power athletes
Ruiz et al, 2010
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Gene polymorphism in power athletes
Ruiz et al, 2010
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Ex Biochem c9-genetics
Gene therapy and gene doping
Gene therapy successfully used in several clinical
conditions
Somatic cell gene therapy
Germ cell gene therapy
Gene doping: possible and may already being used
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
Tissue sampling, DNA sequence
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Ex Biochem c9-genetics
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Ex Biochem c9-genetics
轉錄體學
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Proteomics 蛋白質體學
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Analytical and functional
protein microarray
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
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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