Diabetes Flashcards

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1
Q

What causes MODY (maturity onset diabetes of the young)?

A

Autosomal dominant mutation
HNF 4alpha
HNF 1alpha (most common)
Glucokinase (second most common)

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2
Q

what is HNF 1alpha?

A

Transcription factor that stimulates insulin production
Mutation = insulin production decreases in adulthood when its function naturally deteriorates
(appears in teenage years)

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3
Q

Treatment for HNF 1alpha MODY

A
Metformin = cells more sensitive to insulin
Sypulphonylurea = stimulates pancreas to produce more insulin by forcing potassium channel to close
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4
Q

What is glucokinase MODY?

A

Enzyme converts glucose - G6P
Higher glucose conc needed for insulin secretion to occur
Patients have stable mild hyperglycaemia
not associated with long term complications

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5
Q

HNF4alpha MODY

A

Similar to HNF1alpha but rarer
Older onset
Low renal glucose threshold

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6
Q

HNF1beta MODY

A

Renal cysts and diabetes

Genital tract mutation

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7
Q

What mutation causes Permanent neonatal diabetes

A

KNCJ11
1 in 400000 births
Diabetes in first 6 months

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8
Q

How does the mutation cause permanent neonatal diabetes

A

KNCJ11 causes K+ channel to open when ATP is made by respiration
This means membrane cannot be depolarised and insulin not released

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9
Q

How do sulphonylureas treat PND?

A

Close the K+ channel so signal sent to insulin to be released

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10
Q

What is Sanger sequencing?

A

Sequences all exons of one single gene
Used to identify unknown mutation
Very precise
But expensive, time consuming, poorly automated

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11
Q

What is next generation sequencing?

A

Sequences multiple genes
Used to identify mutations in multiple genes for heterogenous phenotypes
Cost effective
Not very accurate, needs a lot of data to sequence

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12
Q

What is pathogenicity?

A

Ability for an organism to cause disease

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13
Q

Symptoms of maternally inherited diabetes and deafness (MIDD)

A

Young onset deafness
High lactate
Muscle aches
Short stature

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14
Q

What is polygenic diabetes?

A

Type 1 and 2

There must be a second hit to get condition e.g. environmental

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15
Q

What is GWAS?

A

Genome wide association study

Study to see if diseases is associated with single nucleotide polymorphism

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16
Q

Why could be causing the diabetes T2 epidemic?

A

Copy number variation (deletion and duplication of genes)= copies of the same gene

17
Q

how is insulin secreted from a beta cell?

A
ATP sensitive potassium channel
detects ATP from glycolysis 
potassium channel closes
membrane depolarises 
calcium enters 
insulin vesicles released