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Y1 Fwong MCD Genetics > Diabetes > Flashcards

Flashcards in Diabetes Deck (16):
1

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

Autosomal dominant mutation
HNF 4alpha
HNF 1alpha
Glucokinase

2

HNF 1alpha

Transcription factor that stimulates insulin production
Mutation = insulin production decreases in adulthood when its function naturally deteriorates

3

Treatment for HNF 1alpha MODY

Metformin = cells more sensitive to insulin
Sypulphonylurea = stimulates pancreas to produce more insulin

4

What is glucokinase MODY?

Enzyme converts glucose - G6P
Higher glucose conc needed for insulin secretion to occur
Patients have stable mild hyperglycaemia

5

HNF4alpha MODY

Similar to HNF1alpha but rarer
Older onset
Low renal glucose threshold

6

HNF1beta MODY

Renal cysts and diabetes
Genital tract mutation

7

What mutation causes Permanent neonatal diabetes

KNCJ11
1 in 400000 births
Diabetes in first 6 months

8

How does the mutation cause permanent neonatal diabetes

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

9

How do sulphonylureas treat PND?

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

10

What is Sanger sequencing?

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

11

What is next generation sequencing?

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

12

What is pathogenicity?

Ability for an organism to cause disease

13

Symptoms of maternally inherited diabetes and deafness (MIDD)

Young onset deafness
High lactate
Muscle aches
Short stature

14

What is polygenic diabetes?

Type 1 and 2
There must be a second hit to get condition e.g. environmental

15

What is GWAS?

Genome wide association study
Study to see if variations in gene have different traits

16

Why is there a diabetes epidemic?

Copy number variation = copies of the same gene