ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

2. Antenatal and Neonatal Endocrinology

Neonatal diabetes mellitus

ey0019.2-9 | Neonatal diabetes mellitus | ESPEYB19

2.9. SGLT2 inhibitors therapy protects glucotoxicity-induced [beta]-cell failure in a mouse model of human KATP-induced diabetes through mitigation of oxidative and ER stress

ZA Shyr , Z Yan , A Ustione , EM Egan , MS Remedi

PLoS One. 2022 Feb 18;17(2):e0258054. doi: 10.1371/journal.pone.0258054. PMID: 35180212.Brief Summary: This mouse model of diabetes describes how early administration of sodium glucose transporter 2 (SGLT2) inhibitors can protect pancreatic beta-cells from glucotoxicity damage. Early use of SGLT2 inhibitors can revert/prevent beta-cell failure in mice with diabetes due to KATP channel de...

ey0019.2-10 | Neonatal diabetes mellitus | ESPEYB19

2.10. Genetic reduction of glucose metabolism preserves functional [beta]-cell mass in KATP-induced neonatal diabetes

Z Yan , M Fortunato , ZA Shyr , AL Clark , M Fuess , CG Nichols , MS Remedi

Diabetes. 2022 1;71(6):1233-1245. doi: 10.2337/db21-0992. PMID: 35294000.Brief Summary: This mouse model of diabetes tested the hypothesis that reducing the metabolic flux (rate of metabolism) in the beta cell can prevent beta-cell failure and preserve beta-cell mass. Reducing glucose metabolism may be a mechanism for preventing glucotoxicity-induced loss of functional beta-cell mass in diabetes. <...

ey0019.2-11 | Neonatal diabetes mellitus | ESPEYB19

2.11. Cognitive deficits and impaired hippocampal long-term potentiation in KATP-induced DEND syndrome

S Yahil , DF Wozniak , Z Yan , S Mennerick , MS Remedi

Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):e2109721118. doi: 10.1073/pnas.2109721118. PMID: 34732576.Brief Summary: In a mouse model of KATP neonatal diabetes mellitus, this study examined the mechanisms of cognitive deficits and development delay observed in some patients with this form of diabetes. The cognitive deficits and development delay appeared to be independent of the diabetes per...

ey0019.2-12 | Neonatal diabetes mellitus | ESPEYB19

2.12. Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes

G Dalgin , AK Tryba , AP Cohen , SY Park , LH Philipson , SAW Greeley , AJ 3rd Garcia

Sci Rep. 2021 Nov 3;11(1):21590. doi: 10.1038/s41598-021-00939-7. PMID: 34732776.Brief Summary: This study describes the molecular and electrophysiological analysis of the cerebral network generated from cerebral organoids from human induced pluripotent stem cells (hiPSCs) on a patient with neonatal diabetes mellitus due to a KCNJ11 mutation. Some patients w...

ey0019.2-13 | Neonatal diabetes mellitus | ESPEYB19

2.13. An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene

AK Elsayed , S Al-Khawaga , K Hussain , EM Abdelalim

Stem Cell Res. 2021 Jul;54:102433. doi: 10.1016/j.scr.2021.102433. PMID: 34171785.Brief Summary: This study generated induced pluripotent stem cells (iPSCs) from a patient with permanent neonatal diabetes mellitus (PNDM) due to Fanconi-Bickel syndrome. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes mellitus and for the potential of dev...

ey0019.2-14 | Neonatal diabetes mellitus | ESPEYB19

2.14. Mutations and variants of ONECUT1 in diabetes

A Philippi , S Heller , IG Costa , V Senee , M Breunig , Z Li , G Kwon , R Russell , A Illing , Q Lin , M Hohwieler , A Degavre , P Zalloua , S Liebau , M Schuster , J Krumm , X Zhang , R Geusz , JR Benthuysen , A Wang , J Chiou , K Gaulton , H Neubauer , E Simon , T Klein , M Wagner , G Nair , C Besse , C Dandine-Roulland , R Olaso , JF Deleuze , B Kuster , M Hebrok , T Seufferlein , M Sander , BO Boehm , F Oswald , M Nicolino , C Julier , A Kleger

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...