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Developmental Genetics > Huntingtons Disease > Flashcards

Flashcards in Huntingtons Disease Deck (34):
1

What are characteristics of HD?

- Dr George Huntington.

2

What are the symptoms of HD?

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3

What is the inheritance pattern of HD?

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4

How was HD identified?

- Positional Cloning.

5

What were the steps for identifying the HD gene and mutation?

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6

What is the gene involved in HD?

- IT15 // htt gene.

7

What type of repeat is HD?

- CAG.

8

How do you find the number of repeats in an HD individual?

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9

High repeat = ___ onset.

- Low onset.

10

What are the ethical issues with prenatal diagnosis?

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11

What is the purpose of genetic counselling for HD?

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12

Describe the mouse model of pathogenesis for mice.

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13

Describe the drosophila model of pathogenesis for drosophila.

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14

What is the role of somatic instability of HD gene?...

- Rephrase.

15

Only pure repeats are stable.
True or False.

False.
Pure repeats are unstable.

16

What is the model for the relationship between inherited copy number and age-at-onset of symptoms?

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17

What are the alternative pathways of HD from genotype to phenotype?

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18

What does Marsh et al., 2000, say is the cause of neurodegeneration in Drosophila?

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19

Where are the common location of expanded repeats in dominantly inherited disease genes?

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20

What is ALS?

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21

What is FTLD (Variants + Features)?

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22

Mutations in RNA binding proteins _____ & _____ also cause ALS & FTLD.

- TDP-43 & FUS.

23

In order to produce ectopic expression, what system is used? Describe the process.

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24

How can dsRNA act as a pathogenic agent? + What is its partner in crime?

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25

What pathway is responsible for cell death? Process leading to dsRNA toxicity?

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26

What is drosomycin?

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27

What is the model of toxicity caused by repeat-containing dsRNA?.

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28

Function of autophagy?

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29

True or False?
Any specific dsRNA repeat can give rise to a phenotype

False. Must be specific.

30

What are the hypothesis for expanded repeat disease pathogenic pathways involving RNA?

- RNA sequestration.
- RAN translation.
- Toll 'self' RNA recognition.

31

What is the original function of TLRs?

- Used in the immune system to protect an organism from infection viruses and bacteria.

32

Explain the hypothesis 'Expanded repeat RNAs as pathogenic agents by Toll Self RNA recognition.

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33

What is Aicardi - Goutieres Syndrome?

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34

What are the pathogenic mutations in AGS?

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