Neonatal Diabetes Caused by Activating Mutations in the Sulphonylurea Receptor
Diabetes & Metabolism Journal
;
: 157-164, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-35737
ABSTRACT
Adenosine triphosphate (ATP)-sensitive potassium (KATP) channels in pancreatic beta-cells play a crucial role in insulin secretion and glucose homeostasis. These channels are composed of two subunits a pore-forming subunit (Kir6.2) and a regulatory subunit (sulphonylurea receptor-1). Recent studies identified large number of gain of function mutations in the regulatory subunit of the channel which cause neonatal diabetes. Majority of mutations cause neonatal diabetes alone, however some lead to a severe form of neonatal diabetes with associated neurological complications. This review focuses on the functional effects of these mutations as well as the implications for treatment.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polifosfatos
/
Potássio
/
Trifosfato de Adenosina
/
Canais KATP
/
Glucose
/
Homeostase
/
Insulina
Idioma:
Inglês
Revista:
Diabetes & Metabolism Journal
Ano de publicação:
2013
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS