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Caporossi - Coggle Diagram
Caporossi
Genetic variability in human disease and its relation to exercise response and adaptation
response to exercise
not responder
bad responder
good responder
prescription for hypertension
acute vs chronic exercise
small difference in DNA sequence, huge difference in phenotype
gene encoding proteins = 2% of DNA
knowing gene's product -> how products interact -> how modulated by environment
genes utilized only when necessary -> regulation of gene (DNA) expression
the gene's anatomy and consequences of genetic variants
impact on functional properties of protein
common variants: physiological changes -> genetic polymorphism
change in availability of protein
mutation: non physiological changes -> genetic disease
monogenetic vs complex trait
genetic disease -> dominant = need 1 copy of mutation for allele
Huntington's disease -> autosomal dominant mutation
genetically programmed degeneration of brain neuron cells
expansion of a nucleotide triplet CAG repeat in DNA -> codes for protein huntington
inserted polyglutamine, forms protein aggregates -> impair neuron function -> neuron cell death
autosomal recessive trait = both allele with mutation are shared
cystic fibrosis
most common autosomal recessive disease
life expectancy -> maintain high aerobic capacity -> mandatory excercise (also antibiotic & therapy)
x-linked recessive trait
Duchenne muscular dystrophy (only male
genes on mitochondrial DNA
inheritance of mitochondrial traits
The anatomy of human genome -> 46 DNA molecules organised in chromosomes
Gene-environment interaction in the development of complex diseases with focus on exercise
Phenotype = consequence of genetic makeup + environmental factors
identifying genes -> preventive medicine (prone individuals) + some envs. dangerous/beneficial
interventions by genotype information
e.g. weight genetic 50-60% + rest is environment; height 96-98% genetic
monozygotic twins = 100% identical genes; dizygotic like normal siblings = 50%
heritability estimate
gene-environment interaction
some indiv. more at risk being exposed to env. factors
possibility of specific env. intervention = guided by genotype
effect of environment on disease developed = mediated by gene & vice versa
... in disease prevention -> independent from succebility score -> active = lower BMI
genetic determinants of voluntary exercise (predisposition = heritable)
PA = prefentative measure or therapeutic intervention
multifactorial disease -> components of phenotype = interaction between genes & other factors
Stages of disease
Common disease (common variant hypothesis) -> good genes in bad environment can still have risk & vice versa
Gene association studies
candidate gene studies (hypothesis driven)
eNOS & hypertension
obesity
genome-wide association studies
neurodegenerative diseases
Epigenetics: our experiences may affect our DNA
DNA methylation/histone modification = by env. stimuli = regulate gene expression
DNA methylation represses transcription of genes -> inhibiting binding of transcription factors (TF) to DNA
histone modifications affects the accessibility of DNA -> changes in chromatin structure
maternal diet affects epigenetic gene regulation in isogenic offspring
early life env. conditions = influence biology & health
each indiv. = 1 genome & multiple epigenomes
epigenetics & gene activation
epigenetics effect of exercise: PA = immunologic benefits
