MODY

Question 1

What is MODY caused by?

Answer 1

a genetic defect in B cell function normally due to mutation in the glucokinase gene, otherwise - HNF transcription factor mutation

Question 2

Is MODY familial? How is it inherited?

Answer 2

yes

autosomal dominant

Question 3

What do HNF transcription factors play a role in?

Answer 3

foetal pancreatic development and neogenesis (regeneration of tissues)
also regulates B cell differentiation and function

Question 4

How do you differentiate MODY from T1DM?

Answer 4

genetic screening

Question 5

Do MODY people have any B cell function left?

Answer 5

YES

Question 6

Do T1DM people have any B cell function left?

Answer 6

NO

Question 7

When does MODY usually present?

Answer 7

before age of 25

Question 8

Desribe the glucokinase subtype of MODY?

• onset?
• BG levels?

Answer 8

onset at birth
has a stable hypergyceamia - no spikes after meals
rarely diabetic complications

Question 9

What is the treatment of glucokinase subtype MODY?

Answer 9

diet

Question 10

What is the role of glucokinase in the body?

Answer 10

senses glucose in the pancreas

Question 11

Describe the HNF transcription factor subtype of MODY?

• onset?
• BG level?
• complications?

Answer 11

onset at adolescence
progressive hyperglyceamia
frequent diabetic complications

Question 12

How is HNF transcription factor subtype of MODY treated?

Answer 12

diet
T2DM medications - sulphonureas etc
insulin

Question 13

Why would measuring C peptide help to measure insulin levels?

Answer 13

C peptide is co secreted with insulin production

i.e. will show how much insulin is being produced by beta cells

Question 14

Why would measuring C peptide help to measure insulin levels?

Answer 14

C peptide is co secreted with insulin production

i.e. will show how much insulin is being produced by beta cells