Flashcards in 7 Deck (13)
What does MODY stand for?
Maturity onset diabetes of the young. 2-4% of all diabetes cases are MODY.
HNF-1α gene mutation
Leads to most common form of MODY, treated by oral sulphonylureas.
HNF-4α gene mutation
Rare form of MODY, older onset age then presents in 1α.
HNF-1β gene mutation
Form of MODY that also presents with renal cysts, rare form.
Glucokinase gene Mutation
Second most common form of MODY, usually requires no treatment as body's homeostasis set point for blood glucose is higher due to differently formed glucokinase enzyme.
Pdx1 gene mutation
Rare form of MODY, mutation in insuliuin gene promoter.
What do HNF genes encode for?
Hepatocyte Nuclear factors are genes that encode transcription factors.
What leads to MIDD (Maternally inherited diabetes and deafness).
A3243G mutation in MtDNA gene MT-TL1
What leads to MELAS?
Several MtDNA mutations, for example MT-TL1 or MT-ND1.
Only one mutation needed.
What does PND stand for?
Permanent neonatal diabetes (any diabetes that is diagnosed in the first 6 months of life is likely this.)
KCNJ11 gene mutation
Leads to PND as Kir 6.2 sub unit of ATP gated ions channel is malformed. Treated by sulphonylureas.
ABCC8 gene mutation
Leads to PND as Sur 1 sub unit of ATP gated ion channel is malformed. Treated by sulphonylureas.