Endocrine Abstracts

Background and aim: Loss-of-function mutations in TRMT10A, a transfer RNA (tRNA) methyltransferase, cause early onset diabetes and microcephaly. tRNAs play a crucial role in cellular homeostasis and post-transcriptional modifications modulate tRNA function and fragmentation. tRNA-derived halves (tiRNAs, 29-50 nt) and fragments (tRFs, 14-30 nt) are a new class of functional small noncoding RNAs, involved in cellular stress responses. Here we set out to investigate the ...

Background and aims: Diabetes currently affects 425 million people worldwide. Pancreatic β-cell failure is central in the development and progression of type 1 and type 2 diabetes. Diabetes research is slowed by the difficulty to study the diseased tissue, i.e. human islet bcells: these are only available in a few donor organ transplantation centers worldwide. β-cells differentiated from human induced pluripotent stem cells (hiPSCs) represent a novel cell source. Cur...

Background and aims: Wolfram syndrome is a rare autosomal recessive orphan disease. The clinical manifestations are young onset diabetes, optic nerve atrophy and deafness. Most Wolfram patients carry mutations in WFS1. WFS1 deficiency results in endoplasmic reticulum (ER) stress, leading to neurodegeneration and pancreatic β-cell dysfunction and death. Glucagon-like peptide-1 (GLP-1) analogs and the cAMP inducer forskolin have been shown to protect β-cells f...