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ea0057001 | tRNAGln hypomethylation and fragmentation in patient iPSC-derived β-like cells mediates apoptosis in TRMT10A diabetes | BES2018

tRNAGln hypomethylation and fragmentation in patient iPSC-derived β-like cells mediates apoptosis in TRMT10A diabetes

Cristina Cosentino , Sanna Toivonen , Stephane Demine , Andrea Schiavo , Nathalie Pachera , Decio L Eizirik , Miriam Cnop , Mariana Igoillo-Esteve

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 ...

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ea0057004 | GLP-1 analogs protect beta cells and prevent diabetes in models of Wolfram syndrome | BES2018

GLP-1 analogs protect beta cells and prevent diabetes in models of Wolfram syndrome

Mariana Igoillo-Esteve , Sanna Toivonen , Paraskevi Salpea , Cristina Cosentino , Bahareh Rajaei , Anyishai Musuaya , Nathalie Pachera , Piero Marchetti , Cris Brown , Fumihiko Urano , Eizirik Decio L , Miriam Cnop

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...

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ea0071003 | YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: translational research | BES2020

YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: Translational research

Maria Lytrivi , Elisa De Franco , Hazem Ibrahim , Hossam Montaser , Matthew Wakeling , Federica Fantuzzi , Kashyap Patel , Celine Demarez , Ying Cai , Mariana Igoillo-Esteve , Cristina Cosentino , Vaino Lithovius , Helena Vihinen , Eija Jokitalo , Thomas W Laver , Matthew B Johnson , Toshiaki Sawatani , Hadis Shakeri , Nathalie Pachera , Belma Haliloglu , Mehmet Nuri Ozbek , Edip Unal , Ruken Yildirim , Tushar Godbole , Melek Yildiz , Banu Aydin , Angeline Bilheu , Ikuo Suzuki , Sarah E Flanagan , Pierre Vanderhaeghen , Valerie Senee , Cecile Julier , Piero Marchetti , Decio L Eizirik , Sian Ellard , Jonna Saarimaki-Vire , Timo Otonkoski , Andrew T Hattersley , Miriam Cnop

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 ...

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Endocrine Abstracts

tRNAGln hypomethylation and fragmentation in patient iPSC-derived β-like cells mediates apoptosis in TRMT10A diabetes

GLP-1 analogs protect beta cells and prevent diabetes in models of Wolfram syndrome

YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: Translational research

BiosciAbstracts