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1 Genomics, transcriptomics, proteomics, metabolomics, and exercise.

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Presentation on theme: "1 Genomics, transcriptomics, proteomics, metabolomics, and exercise."— Presentation transcript:

1 1 Genomics, transcriptomics, proteomics, metabolomics, and exercise

2 Ex Biochem c9-genetics2 Genomics 基因體學

3 Ex Biochem c9-genetics3 Familial aggregation of VO2max

4 Ex Biochem c9-genetics4 Design of genetic studies -1

5 Ex Biochem c9-genetics5 Design of genetic studies -2

6 Ex Biochem c9-genetics6 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

7 Ex Biochem c9-genetics7 Rankinen T, MSSE, 2006 Genes may affect performance, fitness

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11 Ex Biochem c9-genetics11 DNA 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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14 Ex Biochem c9-genetics14 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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16 Ex Biochem c9-genetics16 ACE polymorphism in Olympic runners

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18 Ex Biochem c9-genetics18 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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20 Ex Biochem c9-genetics20 Myostatin and muscle mass Disabled myostatin gene increase muscle size Mutation rare in humans

21 Ex Biochem c9-genetics21 Myostatin mutations in animals

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23 Ex Biochem c9-genetics23 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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25 Gene polymorphism in power athletes Ex Biochem c9-genetics25 Ruiz et al, 2010

26 Gene polymorphism in power athletes Ex Biochem c9-genetics26 Ruiz et al, 2010

27 Ex Biochem c9-genetics27 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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29 Ex Biochem c9-genetics29 轉錄體學

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33 Ex Biochem c9-genetics33 Proteomics 蛋白質體學

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38 Ex Biochem c9-genetics38 Analytical 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_t ab/nature01512_F1.html

39 Ex Biochem c9-genetics39 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

40 Ex Biochem c9-genetics40 Enea, 2010


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