How long have you had it? Kir 6.2 mutations

 My name is Taylor Renee, I got diabetes when I was 10 months old. If you go to www.childrenwithdiabetes.com there is a thing on the front page about Kir6.2 mutations... anyone know what that is?? It says anyone diagnosed within the first year of life could have it! :( :) lol

Good question,

 

Kir6.2 is a part of a potassium channel which also comprises of a sulphonylurea (named after the drugs to treat this type of diabetes: glibenclamide, tolbutamide...etc.) subunit. It is present in many cells, but in the pancreas it regulates Insulin release. Simply, it detects levels of energy in a pancreatic cell, and closes in response to high levels (i.e. after a meal) so that insulin can be released. Mutations of this gene & therefore ion channel mean insulin release is severly hindered, or is not released at all. As it is a genetic defect it is only inherited, and usually results in neonatal diabetes, hence early diagnosis.

 

I hope this helps!

 

 

Callum