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PoM - Principles of Medicine Week 3 > Treatments > Flashcards

Treatments Flashcards

1
Q

What do the largest group of genetic diseases affect?

A

Metabolism pathways

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2
Q

Consequence?

A

Increased conc of substrate
Alternate pathway producing different, possibly toxic product
Not enough actual product that the pathway is supposed to produce

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3
Q

How does PKU work?

A

Phynylalanine converted to phenylketones
Lack of phynylalanine hydroxylase (discovered in 1953)
1960s screening program to measure pheny alanine treaments

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4
Q

How does PKU present as symptoms?

A

Can’t remember

fairer skin and hair

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5
Q

What is the standard PKU treatment?

A

Low protein diet

Tyrosine supplement

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6
Q

How are treatments derived?

A

After understanding the mechanism of the disease (so science first)
e.g. with PKU…

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7
Q

What is another broad range of disease?

A

Blood clotting diseases e.g. haemophilia

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8
Q

How does haemophilia present?

A

Bleeding into the brain etc

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9
Q

What us the standard treatment for Haemophilia?

A

1930s - snake venom (believed to contain clotting agents)
1940s - patients given large pints of blood
1952 - Factor VIII
1955 - infusions of Factor VIII in plasma form, many pints
1970s - purify Factor VIII protein HOWEVER this caused a huge transferof HIV and Hep B

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10
Q

Where did the haemophilia treatment go wrong?

A

something

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11
Q

How did the issue for haemophilia treatment get solved?

A

Heat treatment

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12
Q

What are some other diseases treated by replacement of the missing molecule?

A

Idk

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13
Q

What are the 2 main treatment options?

A

Diet

replacement

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14
Q

How were diseases treated previously?

A

The symptoms

not the underlying cause

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15
Q

How to form an effective treatment?

A

Understand underlying science / mechanism behind the disease first

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16
Q

What are the steps of drug development

A

Discovery / preclinical
Longest part lab based
testing in animals
clinical testing in 3 phases - first in healthy volunteers to see if there are toxic affects
next patients - therapeutic to look for correct doses plus side effects
large scale

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17
Q

What do trials look for?

A

Risk benefit

Are there more benefits than risks?

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18
Q

What are the NHS values for approval of the use of the drug?

A

NICE - value for money (not absolute cost)

Must follow all guidelines for treating conditions

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19
Q

What controls the folding process of a protein pharmacologically?

A

Chaperones - acts as stabiliser for mutant proteins to help the protein fold correctly
Sits in active site of the enzyme responsible for folding, then the actual protein folds around the chaperone into the correct shape

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20
Q

Why are some proteins misfolded?

A

Complex

ER degrades protein … etc

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21
Q

What is Fabry disease?

A

something

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22
Q

What are pharmacological modulators and what can they be used for?

A

Used in drugs commonly
Best to target specific mutations
receptor agonists / antagonists… etc

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23
Q

How can pharmacological modulators be used to treat CF?

A

Design a drug that works to open the mutant drugs

If you don’t have one of the 33 mutations, it will be unsuccessful?

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24
Q

Drawbacks of modulators?

A

Specific to mutation

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25
How are the drawbacks of these types of treatments overcome?
Combination of treatments
26
Drawbacks of CF and solutions
Even if the channel is folded correctly, doesnt mean itll work? REWATCH Use it with other treatments NOT a cure?
27
What is the issue with combination therapy ?
All will want but only works on some | NOT a cure, only a treatment
28
What is a pre-mature stop codon?
non-sense mutation causes stop codon to be read early | smaller protein formed - degraded
29
How can this be used?
Base durgs on this e.g. Ab that causes rivbosome to mis-translate
30
What is DMD caused by?
Premature stop codon (only some cases) - can't treat BMD
31
Drug to help DMD? what is it based on?
Ataleuren looks similar to streptomycin | Not cures, treatments, but lessened the extent of the disease
32
Drawbacks?
Need correct / exact non-sense mutation | won't work otherwise
33
How can small molecules be ised to treat genetic disease?
Correct folding | ... etc
34
What is gene therapy?
Stop action of defective gene Replace defective gene In practice more diffilcult than it sounds
35
Why is it difficult to achieve in practice?
Specificity In the correct place Maintain expression
36
Easier to achieve in vitro or in vivo?
Vitro
37
Vitro Vs vivo
idk
38
How can mitochondirally inherited dieases be treated?
Requires IVF, replace faulty mitochondria from mother and replace with healthy donor's mitochondria Use spindle fibre
39
What is the controvery on mitochondrially inherited disease treatment?
Three parent babies
40
What is the best vector for gene therapy?
Viruses
41
Why are viruses good vectors and how are they chosen?
Where is the target? How will it get there? how long the treatment needs to last?
42
What is CAR-T cell therapy
Used the treat certain forms of lymphoma Take T-cell receptor and stick a fragment antigen on the MHC protein? Low affinity?? Improves signalling from that receptor?
43
How does the process work for treatment?
``` Take patient blood isolate t-cells infect with lentivirus Suppress patient's own T cell reinfused into patient T cell targets cancerous cells? ```
44
Why is this the last resort for SOME types of cancer only?
Many awful sife effects Expensive Not effective against solid tumours, only against lymphomas
45
What is in vivo gene therapy?
something
46
What are some in vivo treatments used to treat?
idk
47
Example of in vivo supplement?
eye thing
48
What has been developed to treat this?
Virus carrying gene Injected into back of the eye Prevents some of the danage caused to the retina as the virus expresses the protein
49
Issues?
Only recent approval | Often don't recognise patients until the disease has progressed
50
What can be used to prevent unwanted translation of proteins?
antisense oligonucleotides? | 2 ways - can't remember
51
What are the 2 ways
Can't remember
52
Example of oligoantisense thingy?
Inject foetally - blocks translation of the mutant antigen proteins decrease in the huntington's protein Now is phase 3 trial to see if it has benefits
53
Other therapy?
Exon skipping? | Some mutations delete a part of the message - so the remain message is also deleted
54
Useful in limited circumstances?
Only useful in large proteins | Used for DMD occassionally - try ot convert DMD to BMD phenotype instead
55
What does it do?
Skip exon 51 | Dystrophin just with a small bit missing
56
Only got treatments
Haven't got cures yet
57
Possible future therapies?
Gene cell therapy in th UK - increasing no. of trials currently 80-90 on going Source of funding - initally government, now more commercial May be in use in a few years?
58
Issues
Early stages - looking at toxicity not effectiveness | need to recruit patients
59
Gene editing? Most famous?
CRISPR Cas-9 = delete CCR5? Exists in bacterial immune system recognise DNA previously exposed to ad encorporate it into their own DNA Use that to protect itself against viral infections
60
Use this therapeutically how?
Small errors - point mutations
61
Issues?
Can't delete large errors e.g. expansions, deletions etc. May have off target effects Difficult to target and get into the target cell
62
When has crispr-cas9 been used in humans?
Chinese doctors - partial knock out of CCR5 in twins | Controversial - illegal in most of the world
63
Few years ago treatment for mitochondrial disease was controversial
Perhaps gene editing will be more accepted in the future
64
What does the future hold for treatments?
Large number undergoing Many ineffective / not approved Cures more distant - Patient expectations are high - due to media info exposure e.g. using 'miracle', and stats NOT a miracle / cure, ONLY a treatment

PoM - Principles of Medicine Week 3 (9 decks)

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