Flashcards in Huntingtons Disease Deck (34):
What are characteristics of HD?
- Dr George Huntington.
What are the symptoms of HD?
What is the inheritance pattern of HD?
How was HD identified?
- Positional Cloning.
What were the steps for identifying the HD gene and mutation?
What is the gene involved in HD?
- IT15 // htt gene.
What type of repeat is HD?
How do you find the number of repeats in an HD individual?
High repeat = ___ onset.
- Low onset.
What are the ethical issues with prenatal diagnosis?
What is the purpose of genetic counselling for HD?
Describe the mouse model of pathogenesis for mice.
Describe the drosophila model of pathogenesis for drosophila.
What is the role of somatic instability of HD gene?...
Only pure repeats are stable.
True or False.
Pure repeats are unstable.
What is the model for the relationship between inherited copy number and age-at-onset of symptoms?
What are the alternative pathways of HD from genotype to phenotype?
What does Marsh et al., 2000, say is the cause of neurodegeneration in Drosophila?
Where are the common location of expanded repeats in dominantly inherited disease genes?
What is ALS?
What is FTLD (Variants + Features)?
Mutations in RNA binding proteins _____ & _____ also cause ALS & FTLD.
- TDP-43 & FUS.
In order to produce ectopic expression, what system is used? Describe the process.
How can dsRNA act as a pathogenic agent? + What is its partner in crime?
What pathway is responsible for cell death? Process leading to dsRNA toxicity?
What is drosomycin?
What is the model of toxicity caused by repeat-containing dsRNA?.
Function of autophagy?
True or False?
Any specific dsRNA repeat can give rise to a phenotype
False. Must be specific.
What are the hypothesis for expanded repeat disease pathogenic pathways involving RNA?
- RNA sequestration.
- RAN translation.
- Toll 'self' RNA recognition.
What is the original function of TLRs?
- Used in the immune system to protect an organism from infection viruses and bacteria.
Explain the hypothesis 'Expanded repeat RNAs as pathogenic agents by Toll Self RNA recognition.
What is Aicardi - Goutieres Syndrome?