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Pharmacogenomics > Week 4 > Flashcards

Week 4 Flashcards

1
Q

purpose of beta cells

A

produce store and release insulin in response to rising blood glucose

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2
Q

how does glucsoe enter beta cell

A

Glut 2

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3
Q

What occurs to glucose in beta cell

A

metabolised so ATP inceased binds to K channel so K no longer exits

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4
Q

what occurs after ATP bnding to K channels in B cell

A

K channel shuts so K cant exit and cell depolarizes and calcium ions can now enter the cell leading to insulin release

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5
Q

K channel structure

A

4SURI subunits and 2 Kir6.2 subunits

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6
Q

Importance of mutations in K channels in B cells

A

prevent closing so break link between glucose levels and insulin release- neonatal as mutations in K channels in 40% of patients

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7
Q

Characteristics of MODY

A

early diagnosis and seems to be type 1 but autosomally dominantly inherited not tyoe 1 characteristics and can take breaks from insulin

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8
Q

What is MODY

A

maturity onset diabetes of the young

non insulin dependent- gene defect causes defect in beta cell function

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9
Q

different types and frequencies

A

66% by trans factors 22% by glucokinase

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10
Q

What does glucokinase MODY do

A

is pancreatic glucose sensor so setpoint higher- born with higher blood glucose

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11
Q

best treatment for glucokinase MODY

A

do not treat as if give insulin body stops producing tis own and has no effect

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12
Q

HNF1a and HNF4A mutation frequency and effect

A

61% and 4% of mody respectively
autosomal dominant
beta cell reduced function

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13
Q

treatment of HNF1a MODY

A

respond 4 fold better to SU compared to T2D so low dose of SU better treatment than insulin

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14
Q

Sulphonylurea effect

A

binds to K channel causing elss K to leave cell so more depol an more ca entering so more insulin release

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15
Q

HNF1B MODY effect

A

recued number of beta cells as problems with pancreatic development- it is smaller

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16
Q

HNF1B MODY treatment

A

Need insulin to treat, don’t respond to SU

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17
Q

neonatal diabetes diagnosis

A

below 6 months caused by genetics

HLA analysis suggests type 1 diabetes very uncommon before 6 months

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18
Q

Kir6.2 neonatal effect

A

ATP binding sites on K channel mutated so dont close

19
Q

Kir6.2 neonatal treatment

A

high dose SU- casues k clsoing

lowers glucose values and less fluctuation

20
Q

Kir6.2 mutation V59M

A

causes neurological problems

Developmental delays in 21% of Kir6.2

21
Q

Developmental delays in neonatal

A

5% DEND- developmental delay (severe), epilepsy, neonatal diabetes

16% intermediate DEND mild developmental delay no epilepsy nd neonatal diabetes

22
Q

Treatment of type 1 diabetes

A

Insulin

23
Q

treatment of type 2 diabetes

A

Metformin

24
Q

Importance of evaluation of tests

A

Measurement of what value of something new is relative to current precise- reveal new values

25
Q

ACCE wheel

A

Analytic validity
Clinical validity
Clinical utility
Ethical legal and social implications

26
Q

Disorder and setting

A

essential background
What is disorder
what are clinical findigns,

27
Q

Analytical vailidity

A

Defines ability to accurately and reliably measure genotype of interest
Sensitivity and specificity

28
Q

Clinical validity

A

Ability of a test to detect or predict the associate disorder
Sensitivity, specificity, PPR and NPV

29
Q

Clinical utility

A

Defines the elements that need to be considered when evaluating risk and benefits with intro to routine practice
Focuses on health outcomes positive and negative

30
Q

Ethical, legal and social implications

A

What is known about stigma, primary. Are there consent issues

31
Q

sensitivity calculation

A

true positive rate= TP/P

32
Q

specificity and calc

A

true negative rate= TN/N

33
Q

PPv

A

TP/TP+FP

34
Q

NPV

A

TN/Tn+FN

35
Q

predictive risk

A

Relative risk would be 1 if test was not beneficial

If positive then above 1

36
Q

The test’s ability to predict the occurrence of the adverse event of interest

A

Clinical Validity

37
Q

The probability of an adverse event when the genetic variant is present

A

PPV

38
Q

The probability of no adverse event when the genetic variant is absent

A

NPV

39
Q

Indicates potential benefit of a pharmacogenetic test (expected reduction in adverse events or number of patients requiring a different treatment)

A

Population impact

40
Q

measurement of population impact

A

Population attributable fraction

41
Q

The number of individuals who would need to be genotyped to prevent one patient having an adverse event

A

Number needed to gentype

42
Q

Required for the implementation of a pharmacogenetics test as a well as clinical validity and population impact evaluation

A

economic evaluation

43
Q

The ability of a test to discriminate between adverse events, measured by sensitivity and specificity

A

discriminative accuracy

Pharmacogenomics (11 decks)

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