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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
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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

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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.

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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.

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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.

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6
Q

What is the resting potenetial of a neuron?

A

-70mV

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7
Q

What does glutamate do to this resting potential?

A

Make it more positive

Depolarises the cell

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8
Q

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

A

Makes it more negative

Hyperpolarisation

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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

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10
Q

The shape of the graph for an AP?

A

AS7

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11
Q

Wave effect?

A

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

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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

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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

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14
Q

What is the treatment for anxiety?

A

Diazepam

Increases GABAA receptor function

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15
Q

What genetic variation is responsible for anxiety?

A

Decrease gamma2 expression

Increase in anxiety levels

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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)
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17
Q

Glycosylation?

A

In ER and Golgi

the formation of linkages with glycosyl groups.

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18
Q

BiP/calnexin?

A

Fomrs tertiary and quaternary structures.

Aided by chaperone proteins

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19
Q

Disulphide bonds?

A

Essnetial disulphide bonds are needed

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

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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

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21
Q

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

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
Name the type of alpha1 subunit mutation
A322D
26
Other mechanisms that cause epilepsy?
1. Channel function 2. Rasmussen's encephalitis 3. Stargazin mutation 4. Environmental contaminants
27
R43 forms?
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
R82Q and P83S?
Similar effects of gamma2.
29
Name the 3 epilepsy mutations?
R43Q R82Q P83S
30
Gamma 2 (R117G)
Reduces current density. Gamma2 subunit is quiet but the alpha and beta subunits can still make a receptor.
31
A332D mutation?
Unstable regardless of assembly. Alpha1 subunit no longer expressed.
32
R46W muation?
Associated with childhood absense epilepsy. Affects receptor channel gating and expression.
33
Sodium channels?
Voltage gated Generalised epilepsy with febrile seizures- convulsions and fever. Hyper excitability- therefore these channels are easier to activate therefore seizures.
34
Potassium channels?
Voltage gated. Episodic ataxia. Decreased function of potassium channels-AP is now prolonged.
35
ataxia?
describes a group of neurological disorders that affect co-ordination, balance and speech
36
Migraine? What channels Prevalence figures Symptoms
calcium channels Prevalence: 24% females; 12% males. Headaches, nausea, vomiting, sensitivity to light
37
Calcium channels?
Voltage gated
38
alpha1A mutation: Types of mutation What channel does it affect?
It affects calcium channels Cause: missense, nonsense, aberrant splicing and insertion.
39
Familial Hemiplegic Migraine?
Rare Paralysis to half of body. Progressive cerebellar atrophy. Decrease function of all channels due to missense voltage sensor
40
Episodic ataxia? Type of mutations?
Neurodegenerative. Lack of response. Non-functional Types of mutations: frameshift and subsitution
41
Spinocerebellar ataxia?
Slow progressive cerebellar ataxia. Severe neuronal loss in cerebellum Expansion of the mutation at each generation.
42
Alpha1 subunit mutations?
**Tottering** mice Absence/motor seizures Ataxia. **Leaner** mice Absense/motor seizures
43
Beta subunit mutations?
Lethargic mice Absence seizures Ataxia
44
Gamma subunit mutation?
Stargazer mice Epilepsy
45
Rasmussen's encephalitis?
Progressive: only in a single cerebral hemisphere. Causes severe epilepsy. Hemiplegia (paralysis in one side) Dementia Brain inflammation Environmental triggers
46
Extrinsic factors?
When neuronal activity applies there is an increase in lateral diffusion of the neurotransmitter. Therefore can reach more receptors.
47
Stargazer mutation?
Head tossing Epileptic seizure Ataxic Effects the gamma subunit of the calcium channel (intrinsic mutation)
48
Intrinsic mutation?
situated entirely within or pertaining exclusively to this receptor.
49
Extrinsic?
Affects the postsynaptic receptors instead of the presynaptic receptors in which it originates from
50
Environmental excitotoxins for glutamate recepotrs?
Shellfish Ibotenic acid MSG BMAA
51
Environmental excitotoxins for the GABAA receptors?
RDX explosives. Organochlorine pesticides PCBs

E: Neuropsychopharmacology (9 decks)

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