Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

SL12003 Genetics > Alzheimers disease > Flashcards

Alzheimers disease Flashcards

Learn it (46 cards)

Start Studying
1
Q

What is common amongst all neurodegenerative diseases?

A

Loss of synaptic signalling at the early stages of disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the major neurotransmitters in the brain?

A

Glutamate, GABA, ACh, Noadrenaline, dopamine, seratonin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

WHat neuronal population is alzheimers associated w/?

A

Cholinergic neurones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Where are the NTs associated with alzheimers located?

A

Basal forebrain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What neuronal population is parkinsons associated w/?

A

Dopaminergic neurones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Where are the NTs associated with parkinsons located?

A

Substantia nigra

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What neuronal population is associated with Huntingtons disease?

A

Medium spiny GABAergic neurones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Where are the NTs associated with huntingtons disease?

A

striatum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Alzheimers symptoms?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Why are demetia and alzheimers different?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Leading cause of dementia in uk?

A

Alzheimers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Two defining hallmarks of alzheimers disease?

A

plaques of amyloid beta peptide and neurofibrillary tangles composed of Tau

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

Extracellular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

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

A

Intracellular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is Tau?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is a currently emerging hallmark of AD?

A

Inflammation of reactive glia (microglia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

Side effects are both gain of and loss of function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Genetic risk of AD?

A

Does exist, however not causative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

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

20
Q

Biggest risk factor for AD?

21
Q

Possible allelic risk factor of AD?

22
Q

Amount of ApoE4 needed to cause AD risk?

23
Q

Causes of early onset AD?

Study These Flashcards
A

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

24
Q

Link between downs patients and AD?

Study These Flashcards
A

Downs patients present with it at ~40yrs

25
Possible reason for earlier onset of AD in downs patients?
Gene dosage of APP--> it is on chromosome 21
26
Why does APP being on chromosome 21 cause ADs onset to be earlier in downs patients?
More APP is made (three copies of gene instead of 2) so more amyloid beta peptide is made
27
How can GWAS be used to help establish alleles that could be a risk factor?
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
What does APOE stand for?
Apolipoprotein E
29
How many major alleles of ApoE are there?
three
30
Three major alleles of Apo?
ApoE2, ApoE3, ApoE4
31
Highest ApoE allele combination risk factor (i.e. 2,4 3,3 etc)?
ApoE 4,4
32
What is gene penetrance?
If a gene is expressed, the phenotype will occur
33
What is gene penetrance measured in?
%
34
What is PS1, PS2?
Presenilin 1 and presenilin 2
35
How many different mutations have been identified in APP?
>50
36
What does the A673T mutation in APP do regarding AD?
It protects against it
37
How many different mutations have been identified on PS1
>150
38
How many mutations have been identified on PS2?
13
39
Role of PS1?
Component of gamma secretase which cleaves/processes APP
40
What is APP?
A type 1 membrane glycoprotein
41
What is the major type of mutation that has been identified on PS1?
Missense
42
What is the alpha secretase pathway of APP cleavage?
APP is cut in the middle of the amyloid beta peptide sequence
43
What is significant about the alpha secretase pathway of APP cleavage?
As the middle of the amyloid beta peptide sequence is cut, there is no abp therefore no AD
44
What is the beta secretase pathway of APP cleavage?
APP is cut to the side of the amyloid beta peptide sequence.
45
SIgnificance of the beta secretase pathway of APP cleavage?
As APP is cut to the side of the amyloid beta peptide sequence, abp can be formed so there is an AD risk
46
Why is Tau not a cause of AD?
It instead causes frontotemporal dementia and parkinsonism

SL12003 Genetics (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions