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SL12003 Genetics > Alzheimers disease > Flashcards

Alzheimers disease Flashcards

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1
Q

What is common amongst all neurodegenerative diseases?

A

Loss of synaptic signalling at the early stages of disease

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2
Q

What are the major neurotransmitters in the brain?

A

Glutamate, GABA, ACh, Noadrenaline, dopamine, seratonin

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3
Q

WHat neuronal population is alzheimers associated w/?

A

Cholinergic neurones

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4
Q

Where are the NTs associated with alzheimers located?

A

Basal forebrain

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5
Q

What neuronal population is parkinsons associated w/?

A

Dopaminergic neurones

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6
Q

Where are the NTs associated with parkinsons located?

A

Substantia nigra

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7
Q

What neuronal population is associated with Huntingtons disease?

A

Medium spiny GABAergic neurones

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8
Q

Where are the NTs associated with huntingtons disease?

A

striatum

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9
Q

Alzheimers symptoms?

A

Gradual degradation of memory, learning ability, reasoning and ability to make judgements

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10
Q

Why are demetia and alzheimers different?

A

Alzheimers is a specific disease, dementia defines a group of symptoms

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11
Q

Leading cause of dementia in uk?

A

Alzheimers

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12
Q

Two defining hallmarks of alzheimers disease?

A

plaques of amyloid beta peptide and neurofibrillary tangles composed of Tau

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13
Q

Where are the plaques of amyloid beta peptide found (cell-related)?

A

Extracellular

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14
Q

Where are the neurofibrillary tangles composed of Tau found (cell-related)?

A

Intracellular

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15
Q

What is Tau?

A

A protein involved in microtubule assembly (part of the cytoskeleton)

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16
Q

What is a currently emerging hallmark of AD?

A

Inflammation of reactive glia (microglia)

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17
Q

Characteristic of side effect of inflammation of reactive glia (function-related)?

A

Side effects are both gain of and loss of function

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18
Q

Genetic risk of AD?

A

Does exist, however not causative

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19
Q

What kind of disease is AD categorised as (genetic/sporadic)?

A

Sporadic

20
Q

Biggest risk factor for AD?

A

Age

21
Q

Possible allelic risk factor of AD?

A

ApoE4 Allele

22
Q

Amount of ApoE4 needed to cause AD risk?

A

One copy

23
Q

Causes of early onset AD?

A

Autosomal dominant mutations in amyloid precursor protein (APP) or presenilin 1&2 (PS1, PS2)

24
Q

Link between downs patients and AD?

A

Downs patients present with it at ~40yrs

25
Q

Possible reason for earlier onset of AD in downs patients?

A

Gene dosage of APP–> it is on chromosome 21

26
Q

Why does APP being on chromosome 21 cause ADs onset to be earlier in downs patients?

A

More APP is made (three copies of gene instead of 2) so more amyloid beta peptide is made

27
Q

How can GWAS be used to help establish alleles that could be a risk factor?

A

GWAS people with and without the disease.
See if there is a statistically significant amount of people with/without x allele in the disease group compared to the control group
If there is this allele/absence of may be a risk factor

28
Q

What does APOE stand for?

A

Apolipoprotein E

29
Q

How many major alleles of ApoE are there?

A

three

30
Q

Three major alleles of Apo?

A

ApoE2, ApoE3, ApoE4

31
Q

Highest ApoE allele combination risk factor (i.e. 2,4 3,3 etc)?

A

ApoE 4,4

32
Q

What is gene penetrance?

A

If a gene is expressed, the phenotype will occur

33
Q

What is gene penetrance measured in?

A

%

34
Q

What is PS1, PS2?

A

Presenilin 1 and presenilin 2

35
Q

How many different mutations have been identified in APP?

A

> 50

36
Q

What does the A673T mutation in APP do regarding AD?

A

It protects against it

37
Q

How many different mutations have been identified on PS1

A

> 150

38
Q

How many mutations have been identified on PS2?

A

13

39
Q

Role of PS1?

A

Component of gamma secretase which cleaves/processes APP

40
Q

What is APP?

A

A type 1 membrane glycoprotein

41
Q

What is the major type of mutation that has been identified on PS1?

A

Missense

42
Q

What is the alpha secretase pathway of APP cleavage?

A

APP is cut in the middle of the amyloid beta peptide sequence

43
Q

What is significant about the alpha secretase pathway of APP cleavage?

A

As the middle of the amyloid beta peptide sequence is cut, there is no abp therefore no AD

44
Q

What is the beta secretase pathway of APP cleavage?

A

APP is cut to the side of the amyloid beta peptide sequence.

45
Q

SIgnificance of the beta secretase pathway of APP cleavage?

A

As APP is cut to the side of the amyloid beta peptide sequence, abp can be formed so there is an AD risk

46
Q

Why is Tau not a cause of AD?

A

It instead causes frontotemporal dementia and parkinsonism

SL12003 Genetics (12 decks)

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