Endocrine Abstracts

Understanding how beta-cells maintain themselves in the adult pancreas is important for the development of strategies aimed at ameliorating or ideally curing different forms of diabetes. There has been much debate over whether beta-cell proliferation, as a means of self-renewal, predominates compared to the existence and differentiation of a pancreatic stem cell or progenitor cell population. Based on studies in the mouse, both principles can be demonstrated, although in norma...

Objective: Neonatal diabetes is caused by single gene mutations reducing pancreatic β-cell number or impairing β-cell function. Understanding the genetic underpinnings of rare diabetes subtypes highlights fundamental biological processes in β-cells. Our aim was to explore the genetic basis of a syndrome characterized by neonatal diabetes, microcephaly and epilepsy.Methods: We performed whole genome sequencing for 2 unrelated patients with ...