Neonatale diabetes op basis van KCNJ11 mutatie: effect van behandeling met sulfonylurea op hersenfunctie-ontwikkeling

KCNJ11 mutaties zijn een belangrijke oorzaak van neonatale diabetes. Dit gen codeert de binnenste subunit van het K-ATP kanaal in de pancreas en in de spieren, zenuwen en hersenen. Sulfonylurea spelen in op de buitenste subunit van het K-ATP kanaal. Recent werd aangetoond dat de diabetes goed onder controle te krijgen is met sulfonylurea. Het huidige project probeert te achterhalen of behandeling met sulfonylurea ook leidt tot een verbetering van hersenfunctie.

Onderzoekers:

Prof. Dr. Mijna Hadders-Algra - Ontwikkelingsneurologie
Dr. Annabelle Slingerland - Cardiologie, LUMC
Prof. Dr. Andrew Hattersley - Peninsula Medical School, Exeter, UK

Recente publicaties:

  1. Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. Improved motor development and long term good glycaemic control with sulfonylurea treatment in a patient with intermediate DEND-syndrome associated with the V59M mutation in the KCNJ11 gene. Diabetologia 2006; 49: 2559-63.
  2. Slingerland AS, Hurkx W, Noordam K, Jukema JW, Meiners LC, Flanagan SE, Bruining GJ, Hattersley AT, Hadders-Algra M. Sulphonylurea therapy improves cognition in a patient with the V59M KJCNN11 mutation. Diabet Med 2008; 25: 277-81.

Neonatal diabetes due to KCNJ11 mutation: effect of treatment with sulphonylurea on brain function

KCNJ11 mutations are a common cause of neonatal diabetes. The KCNJ11 gen encodes the inner subunit of the K-ATP channel in the pancreas, muscles, nerves and brain. Sulphonylurea act on the outer subunit of the K-ATP channel. Recently it had been demonstrated that treatment with suphonylurea worked well to control diabetes. The current project aims at investigating whether treatment with sulphonylurea also affects brain function.

Main investigators:

Mijna Hadders-Algra, MD PhD - Developmental Neurology
Annabelle Slingerland, MD, PhD - Cardiology, LUMC
Andrew Hattersley, MD, PhD - Peninsula Medical School, Exeter, UK

Recent publications:

  1. Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. Improved motor development and long term good glycaemic control with sulfonylurea treatment in a patient with intermediate DEND-syndrome associated with the V59M mutation in the KCNJ11 gene. Diabetologia 2006; 49: 2559-63.
  2. Slingerland AS, Hurkx W, Noordam K, Jukema JW, Meiners LC, Flanagan SE, Bruining GJ, Hattersley AT, Hadders-Algra M. Sulphonylurea therapy improves cognition in a patient with the V59M KJCNN11 mutation. Diabet Med 2008; 25: 277-81.