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Lecture 2

BIMS 201 Lecture Notes - Lecture 2: Penetrance, World Tourism Organization, Epigenetics

Biomedical Science
Course Code
BIMS 201
Elizabeth A.Crouch

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Hutigto’s Disease Videos and Discussion-Notes
Ipat o Youg Ppl
Very hereditary
Symptoms: trouble eating, drooling, wheelchair bound—a’t alk ell, ood/ehaio
problems, jerky movements, trouble speaking/slurring, poor balance and coordination,
twitching, bad mood swings
Health progressively diminishes
Class Discussion
Autosomal DOM
o When parent has it, kids have 50% of having it
o Penetrance: just bc you have genotype, do you EXP phenotype
Hutigto’s has high peetae
HTT: when folded it cleavesforms plaques that build upapoptosis in nerve
cellsextreme loss of fxn
o Pathogenesis
o Moving target
o Anticipation: can predict age of onset of disease in next generation
Hutigto’s shos / 30-40 years of age
Not considered lethal from genetics standpoint bc can reproduce
When passed thru father, mismatch and expansion of chromosomes happens > freq.
than in females during spermatogenesis
o Epigenetics and methylation
o Females children: juvenile (17-19 years old) onset, > severe symptoms, faster
Triple repeat disease
o CAG amino acid sequence repeated certain # of times
o We all normally fluctuate in this repeat #, but w/too much repeating folding
abnormalities incorrect degrading
Neurons=very plastic
o Reproduce very slowly
o Modified for epigenetic mechanisms-control gene EXP w/o changing DNA
o Things like childhood trauma, abuse, and learning processes happen through
changes in genes being turned on/off in neuronal pathways
o Things we learn can be unlearned
o Things imprinted w/in childhood=permanent
Epigenetic mechanism occurring bc worse when inherited from father rather than
Reasons to test
o Reproductive
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