| Title: |
A novel somatic mutation implicates ATP6V0D1 in proinsulin processing |
| Authors: |
Avari, P; Eng, PC; Hu, M; Chen, R; Popovic, N; Polychronakos, C; Spalding, D; Rutter, GA; Oliver, N; Wernig, F |
| Source: |
5 ; 1 |
| Publisher Information: |
Oxford University Press |
| Publication Year: |
2022 |
| Collection: |
Imperial College London: Spiral |
| Description: |
Context Prohormone convertase 1/3 (PC1/3), encoded by protein convertase subtilisin kexin type 1 (PCSK1), converts inactive prohormones into biologically active peptides. Somatic mutations of insulinomas are associated with genetic defects interfering with control of insulin secretion from pancreatic beta cells. However, somatic mutations in proinsulinomas have not been described. Objective We report a case of a proinsulinoma, with suppressed insulin and C-peptide levels. Methods A 70-year-old woman presented with a 20-year history of “blackouts.” During a 72-hour fast, blood glucose level dropped to 1.9 mmol/L with suppressed plasma insulin and C-peptide levels, but proinsulin levels were raised at 37 pmol/L ( |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
Journal of the Endocrine Society; http://hdl.handle.net/10044/1/101588 |
| DOI: |
10.1210/jendso/bvac196 |
| Availability: |
http://hdl.handle.net/10044/1/101588; https://doi.org/10.1210/jendso/bvac196 |
| Rights: |
© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com ; http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.FE8DEF7F |
| Database: |
BASE |