Abstract
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.
Highlights
Insulin gene mutations, either dominant or recessive, can cause permanent neonatal diabetes mellitus (INS/PNDM), which is defined as diabetes with onset within 6 months of birth [1, 2]
In most patients with heterozygous, dominant INS mutations, C-peptide is in the normal-low range at diabetes outset, but over time declines to undetectable levels as a consequence of ongoing apoptosis of the pancreatic beta cells
This process is triggered by the sustained endoplasmic reticulum (ER) stress [2] induced by misfolding of mutant insulin trapped inside the beta cell
Summary
Either dominant or recessive, can cause permanent neonatal diabetes mellitus (INS/PNDM), which is defined as diabetes with onset within 6 months of birth [1, 2]. INS dominant mutations give rise to diabetes that presents during infancy [3]. In most patients with heterozygous, dominant INS mutations, C-peptide is in the normal-low range at diabetes outset, but over time declines to undetectable levels as a consequence of ongoing apoptosis of the pancreatic beta cells.
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