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Emerging treatments Flashcards

1
Q

what courses Inborn errors of metabolism

A

lack enzyme

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2
Q

example sof IEOM

A

PKU
MCAD Deficiency
Maple Syrup Urine Disease
Homocystinuria

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3
Q

effect what pathways

A

Carbohydrate metab
Fatty acid metab
Proteins metab

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4
Q

why does a lack of enzye cause the diseases

A

lack enzyme means you lack the product

increase in substrate level

cause alternate product

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5
Q

what is PKU

A

Phenylketonuria

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6
Q

what is teh lacked enzyme

A

Phenylalanine

hydroxylase

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7
Q

what does Phenylalanine

hydroxylase do

A

converts Phenylalanine to

Tyrosine

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8
Q

consequence

A

alternate product of Phenylketones

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9
Q

what does untreated PKU cause

A 
Major cognitive impairment 
behavioural difficulties
fairer skin, hair and eyes than siblings
     lack of melanin
recurrent vomiting
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10
Q

how to treat

A

Treated with low protein diet – Tyrosine supp.

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11
Q

what to do before treatment

A

Before treatment need to identify cause

Possible before gene identified - biochemistry

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12
Q

what is Haemophilia

A

Blood clotting disorder

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13
Q

what does it cause

A 
Uncontrolled bleeding
Bleeding into joints
 excruciating pain
Bleeding into brain
Internal bleeding
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14
Q

what happens if it is untreated

A

fatal

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15
Q

major downside of treatment

A

coontaminated blood

clotting factors contaminated with diseases

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16
Q

treatment

A

– Recombinant Factor VII treatment

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17
Q

can you treat other disease by replace missing factor

A

yes

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18
Q

what do Pharmacological Therapies targeting protein treat

A

Treat the condition not symptoms

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19
Q

do they cure

A

no, only treat so lifelomg

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20
Q

what process invlolve molecular chaperones

A

folding of protiens
they assist in folding or unfolding of protiens
by stabilizing the intermediates

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21
Q

what does Migalastat do and what is it

A

Migalastat small molecule chaperone

Stabilises enzyme in correct shape

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22
Q

a cause of Cystic fibrosis

that is treated by Pharmacological Modulators

A

Defective chloride channel

Mutations (33) cause channel not to open

Design a drug which causes activation - Ivacaftor

Is mutation specific

23
Q

Cystic fibrosis

caused by misfoled thus inactived channel treatment

A

Treat with combination chaperone and activator

24
Q

what are Pharmacological Modulators

A

commonly used drugs

25
Q

what do they target

A

Receptor agonists/antagonist

Ion channel activators/blockers

26
Q

what is a by non-sense mutation

and what is causes

A

-premature stop codon
This prevents protein production
(smaller protien)

27
Q

how to treat

A

Stop codon read through

28
Q

example

A

Aminoglycoside antibiotics bind to ribosome
Cause mistranslation
Drugs based on these → read through non-sense mutations

29
Q

what is the cause of Duchenne muscular dystrophy

A

premature stop

30
Q

what is Becker muscular dystrophy

A

– missing section

31
Q

but they are mutation specific so

A

Non-sense mutation specific

noyt cure but treat disease not symptoms

32
Q

why is gene therapy harder in pratice

A

Achieving specificity
Getting therapy to right place
maintain expression

33
Q

what does in vivo mean

A

in teh living

34
Q

ex vivo

A

out the living

35
Q

In vitro

A

in glass

36
Q

how to carry out Mitochondrially inherited disease therapy

A

Requires IVF
Take DNA from fertilised patient egg
Transfer to donor egg normal mitochondria

37
Q

how does Virus gene therapy work

A

Can Engineer virus to carry therapeutic gene

38
Q

what is viral tropism

A

affinity to infect certain cell types

39
Q

what does the virus depends on

A

Virus choice depends on target tissue

Amount of DNA limited depends on virus

40
Q

why are ex vivo treatmnets using virus used to treat mainly the heampotic system

A

stem cells are easily reached and replaced

41
Q

what is an In vitro gene therapy ADA-SCID

SCID resulting from Adenosine deaminase deficiency

A

Strimvelis

42
Q

how to carry out

A 
Isolate patients Hemopoietic stem cells 
Isolate and expand CD34+
Transfected with ADA – lentivirus
Grow transformed cells
Treat patient with busulfan (kill HSC) 
Reinfused transformed cells into patient
43
Q

what are Anti-sense oligonucleotides

A

Short modified nucleic acid complementary to target

Modification prevents degradation allow entry to cell

44
Q

what do they do

A

Binds to target
Block translation
Can also alter splicing

45
Q

advntg

A

Relatively cheap to make

46
Q

what are they useful for

A

Useful for diseases caused by gain of function

47
Q

what can they mediate

A

exon skipping

48
Q

what is it taregt

A

pre mrna maturation

49
Q

what happens

A 
Oligonucleotides cause exon to be skipped
Can be used to skip disease causing exon
To put RNA back in reading-frame 
Useful in limited circumstances
Exons skipped mustn't be vital
Generally only large proteins
50
Q

what is CRISPR

A

Bacterial system disable bacteriophages

51
Q

what isCAS9

A
  • Crispr associated protein 9- Endonuclease

Recognises and Cleaves DNA CRISPR hybrids

52
Q
  • things
A

Gene editing correct relatively small errors
Cannot correct large changes
deletions, triplet expansion
May have off target effects

53
Q

Same problem as other methods

A

targeting

getting into all cell

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