7: MODY Flashcards
What are two types of monogenic diabetes?
MODY
Neonatal diabetes
People with monogenic diabetes are commonly misdiagnosed with what?
Type 1 and 2 diabetes
MODY is autosomal (dominant / recessive).
autosomal dominant
Do people with MODY require insulin?
No, not the same as Type 1 diabetes
The gene for which enzyme commonly mutates in MODY?
Glucokinase
People with MODY1, MODY2 etcetera have mutations of which transcription factors?
HNF-alpha
What are the most common types of MODY?
Glucokinase mutation
MODY1
MODY2
Glucokinase mutations alter the __ __ at which insulin is secreted.
set point
of blood glucose concentration
Is glucokinase-related MODY a progressive condition?
No
it never gets any worse as the set point shift doesn’t change
Are MODY1 and 2 progressive conditions?
Yes
What test can be used to tell glucokinase mutations apart from HNF mutations?
Oral glucose tolerance test
Glucokinase mutations are diagnosed as diabetes because the fasting glucose concentration is more than _ mmol/L.
7 mmol/L
In contrast to glucokinase mutations, HNF mutations cause ___ disease requiring treatment with ___ and insulin.
progressive disease
drugs and insulin
HNF1-alpha mutations affect what aspects of a beta cell?
GLUT2 transporter
Glucose transport
Mitochondrial metabolism
Why are patients with HNF1-alpha mutations sensitive to sulphonylurea treatment?
K+ channel not affected
