K_ATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies.

ABSTRACT: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy/childhood and is a serious condition associated with severe recurrent attacks of hypoglycemia due to dysregulated insulin secretion. Timely diagnosis and effective treatment are crucial to prevent severe hypoglycemia that may lead to life-long neurological complications. In pancreatic β-cells, adenosine triphosphate (ATP)-sensitive K⁺ (K_ATP) channels are a central regulator of insulin secretion vital for glucose homeostasis. Genetic defects that lead to loss of expression or function of K_ATP channels are the most common cause of HI (K_ATP-HI). Much progress has been made in our understanding of the molecular genetics and pathophysiology of K_ATP

SUBMITTER: ElSheikh A 

PROVIDER: S-EPMC10086357 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature