Are mutations in the ABCC8 ( SUR1 subunit of the K ( ATP ) channel ) gene associated with a variable clinical phenotype?
Mutations in SUR1 are the cause of about 15% of Kir6.2 negative permanent ND in Poland. The clinical phenotype of SUR1 diabetic mutation carriers is heterogeneous and it appears to be modified by variable sensitivity to insulin.
We conclude that ASA effects on membrane cholesterol content prevent the membrane fluidity changes needed for MLR expression.