1 Genomics, transcriptomics, proteomics, metabolomics, and exercise

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Genomics, transcriptomics, proteomics, metabolomics, and exercise

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Genomics 基因體學

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Familial aggregation of VO2max

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Design of genetic studies -1

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Design of genetic studies -2

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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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Rankinen T, MSSE, 2006

Genes may affect performance, fitness

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Ex Biochem c9-genetics 11DNA microarray 微陣列 , gene chip 基因晶片 Specific nucleotide base pairing 1 small chip can contain thousands of spots

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ACE and endurance performance Angiotension-converting enzyme

Angiotensinogen angiotensin II, vacoconstrictor 287 nucleotide insertion/deletion polymorphism

Effect of genotypes on VO2max inconsistent Greater muscle efficiency in I/I compated to D/D

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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ACE polymorphism in Olympic runners

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ACTN3 and muscle performance Alpha-actinin 3

R577X (arginine stop codon at codon 577) X-allele frequency 25-50% in different populations

In patients with several muscular disorders: X/X genotype complete absence of ACTN3 protein 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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Myostatin and muscle mass

Disabled myostatin gene increase muscle size

Mutation rare in humans

Ex Biochem c9-genetics 21Myostatin mutations in animals

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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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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 virus-based 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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轉錄體學

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Proteomics 蛋白質體學

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Ex Biochem c9-genetics 38Analytical and functional protein microarray

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_tab/nature01512_F1.html

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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

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Enea, 2010