Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

E: Neuropsychopharmacology > Epilepsy mutations > Flashcards

Epilepsy mutations Flashcards

1
Q

Two states of ion channel

A
  1. Intrinsic: mutations in ion channel.
  2. Extrinsic: normal ion channel sequence
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Intrinsic mutations:

Mis-sense

A

A single point mutation in the coding region of DNA

Causing a change in the triplet codon leading to a change in the amino acid (N->S).

Incorporated into the protein during translation

Known as mis-sense

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

Intrinsic mutation:

Non-sense?

A

If the codon change generates a stop codon.

Translation is terminated at this point

Generates a short protein.

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

Intrinsic mutations

Frame shift 1: insertion?

A

Mutation is an addition of a single base.

the reading frame is altered.

Completely unrelated protein to the parental DNA.

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

Intrinsic mutations:

Frame shift 2 (deletion)

A

A frame-shift occurs upon the deletion of a single base.

A stop codon is encountered that exist out of frame in the parental DNA.

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

What is the resting potenetial of a neuron?

A

-70mV

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

What does glutamate do to this resting potential?

A

Make it more positive

Depolarises the cell

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

What does the GABAA do the resting potential of a neurone?

A

Makes it more negative

Hyperpolarisation

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

Action potential?

A

Excitation and inhibition balance.

Moves towarsd depolarisation to fire AP.

Multiple inputs are required to make this happen

Therefore AP is not just erratic but buffered

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

The shape of the graph for an AP?

A

AS7

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

Wave effect?

A

AP move as a wave from the cell body down the dendrites onto post-synpases.

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

Propagation?

A

During the AP sodium channels are open.

Downstream: channels are inactivated- takes time for them to be reactivated.

Upstream:sodium channels are closed.

Wave effect: leaving behind a trail of inactivated sodium channels

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

What is the percentage of population that has anxiety disorders?

Name the 3 types of anxiety disorders?

A

25% of population

Phobias

Panic disorders

Post-traumatic stress

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

What is the treatment for anxiety?

A

Diazepam

Increases GABAA receptor function

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

What genetic variation is responsible for anxiety?

A

Decrease gamma2 expression

Increase in anxiety levels

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

Name the 3 post-translational processing related to protein biogenesis?

A
  1. Protein glycosylation
  2. Disulphide bond formation
  3. Protein folding(2nd-3rd) and oligomerisation (4th- coming together to produce a protein receptor)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Glycosylation?

A

In ER and Golgi

the formation of linkages with glycosyl groups.

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

BiP/calnexin?

A

Fomrs tertiary and quaternary structures.

Aided by chaperone proteins

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

Disulphide bonds?

A

Essnetial disulphide bonds are needed

Only when the correct disulphide bond is formed will the substrate be released

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

GABAA receptor?

A

5 TM

GABA binding site at the interface between alpha and beta subunits.

Benzodiapin binds between the alpha and gamma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the success rate of getting the correct confirmation for the GABAA receptor?

A

20-30%

22
Q

Chaperon

A

a family of proteins that aid in the folding of target proteins.

23
Q

Name the 2 epilepsy mutations?

A

Gamma2 subunit mutation

Alpha1 subunit mutations

24
Q

Name the 3 types of gamma2 subunit mutations?

A

R43Q

K289M

Q351X

25
Q

Name the type of alpha1 subunit mutation

A

A322D

26
Q

Other mechanisms that cause epilepsy?

A
  1. Channel function
  2. Rasmussen’s encephalitis
  3. Stargazin mutation
  4. Environmental contaminants
27
Q

R43 forms?

A

Inter-subunits contacts.

Interaction between the alpha-beta and gamma-alpha.

Loss of interaction between gamma and beta.

Some activity still there but efficiency is decreased.

28
Q

R82Q and P83S?

A

Similar effects of gamma2.

29
Q

Name the 3 epilepsy mutations?

A

R43Q

R82Q

P83S

30
Q

Gamma 2 (R117G)

A

Reduces current density.

Gamma2 subunit is quiet but the alpha and beta subunits can still make a receptor.

31
Q

A332D mutation?

A

Unstable regardless of assembly.

Alpha1 subunit no longer expressed.

32
Q

R46W muation?

A

Associated with childhood absense epilepsy.

Affects receptor channel gating and expression.

33
Q

Sodium channels?

A

Voltage gated

Generalised epilepsy with febrile seizures- convulsions and fever.

Hyper excitability- therefore these channels are easier to activate therefore seizures.

34
Q

Potassium channels?

A

Voltage gated.

Episodic ataxia.

Decreased function of potassium channels-AP is now prolonged.

35
Q

ataxia?

A

describes a group of neurological disorders that affect co-ordination, balance and speech

36
Q

Migraine?

What channels

Prevalence figures

Symptoms

A

calcium channels

Prevalence: 24% females; 12% males.

Headaches, nausea, vomiting, sensitivity to light

37
Q

Calcium channels?

A

Voltage gated

38
Q

alpha1A mutation:

Types of mutation

What channel does it affect?

A

It affects calcium channels

Cause: missense, nonsense, aberrant splicing and insertion.

39
Q

Familial Hemiplegic Migraine?

A

Rare

Paralysis to half of body.

Progressive cerebellar atrophy.

Decrease function of all channels due to missense voltage sensor

40
Q

Episodic ataxia?

Type of mutations?

A

Neurodegenerative.

Lack of response.

Non-functional

Types of mutations: frameshift and subsitution

41
Q

Spinocerebellar ataxia?

A

Slow progressive cerebellar ataxia.

Severe neuronal loss in cerebellum

Expansion of the mutation at each generation.

42
Q

Alpha1 subunit mutations?

A

Tottering mice

Absence/motor seizures

Ataxia.

Leaner mice

Absense/motor seizures

43
Q

Beta subunit mutations?

A

Lethargic mice

Absence seizures

Ataxia

44
Q

Gamma subunit mutation?

A

Stargazer mice

Epilepsy

45
Q

Rasmussen’s encephalitis?

A

Progressive: only in a single cerebral hemisphere.

Causes severe epilepsy.

Hemiplegia (paralysis in one side)

Dementia

Brain inflammation

Environmental triggers

46
Q

Extrinsic factors?

A

When neuronal activity applies there is an increase in lateral diffusion of the neurotransmitter.

Therefore can reach more receptors.

47
Q

Stargazer mutation?

A

Head tossing

Epileptic seizure

Ataxic

Effects the gamma subunit of the calcium channel (intrinsic mutation)

48
Q

Intrinsic mutation?

A

situated entirely within or pertaining exclusively to this receptor.

49
Q

Extrinsic?

A

Affects the postsynaptic receptors instead of the presynaptic receptors in which it originates from

50
Q

Environmental excitotoxins for glutamate recepotrs?

A

Shellfish

Ibotenic acid

MSG

BMAA

51
Q

Environmental excitotoxins for the GABAA receptors?

A

RDX explosives.

Organochlorine pesticides

PCBs

E: Neuropsychopharmacology (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions