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Samenvatting Mechanismen van ziekte: Vanakker
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Samenvatting mechanismen van ziekte (deel genetica, gegeven door Olivier Vanakker)
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Mutaties (monogenisch)A. Betekenis van een mutati e, oorsprong en mutati e hotspots
Verandering 1 base: puntmutatie
Spontaan, de novo
- Tgv zuurstofradicalen
- DNA replicatie errors
o Verkeerde base ingebouwd
o Mismatch repair eiw
- At random
o Transversie: Pu Py
o Transitie: Pu Pu/Py Py
o Pu : A/G
o Py : C/T
Grootte target gen
Hotspots
- Gev voor DNA schade/snel mutaties
- CpG eilanden
o Methylatie C
o C>T, G>A
B. Causaliteit van mutati es: silent mutati es vs. missense mutati es.
Silent
- Susceptibiliteitsfactor
o Risico op TBC
o Efficiëntie medicatie
- Effect op mRNA
o Interactie met ribosoom/spliceosoom/tRNA
- Hutchinson Gilford Progeria syndroom
o LMNA gen
- Mucoviscidose
- Hemofilie B
- Diabetes mellitus
- Baarmoederhalskanker
Missense
- Ehlers Danlos syndroom
o Coll triple helix: substitutie Gly
o Joint hypermobility, skin hyperextensibility, atrophic scarring, vascular fragility,
bruising
- Pseudoxanthoma elasticum
o Mutatie ABCC6 : hepatic transporter
o Mineralisatie, neovascularisation, papular lesions, occlusive disease
, C. Hoe voorspel je de causaliteit van een mutati e?
- Humane mRNA rescue experiment
o Variant added + rescue: normale variatie
o Variant added + no rescue: mutatie
D. Eff ecten van mutati es en mogelijkheden van allel-specifi eke gentherapie
CRISPR-Cas9
- Nuclease: dubbelstrengige DNA breuk
- gRNA: guidance RNA
Sodium phenylbutyrate: 4PBA
- inhib histonen deacytelase
- chemische chaperone
- anti-kanker
- prot misfolding diseases
E. Mosaïcisme voor mutati es: somati sch vs. germinaal mosaïcisme.
- hoe lager % mutante cellen, hoe milder fenotype
Somatisch: cel-cel interactie
- Proteus syndroom
o AKT I gen: 0,5% mutant
o Asymmetrisch
o Mutatie in alle cellen: lethaal
- Craniofrontonasale dysplasie
o EFNB I gen (Ephrine B1): dimeer
o X-gebonden, paradoxaal: enkel vrouwen
o WT en mutant kunnen niet dimeriseren
Germinaal: mutatie enkel in germinale cellen
F. Secundaire eff ecten van mutati es
Epidermodysplasia Verruciformis
- AR, EVER1/2 mutaties
- Gevoeligheid voor HPV infecties
- Zn2+ ↗ => active TF ↗ => infectie met HPV: virus replicatie
G. Dynamische mutati es: principe, werkingsmechanisme en voorbeelden
- Expansie tgv slipped strand mispairing
- Matige CAG expansie in coderende regio: GOF
o Polyglutamine aggregaten
o Late onset
o Geen mutaties in genen/genen niet gerelateerd
o Transscriptie/translatie geëxpandeerde allel
o Parent of origin effect
Paterneel: bijna altijd anticipatie
Materneel: 50% anticipatie
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