Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function.

ABSTRACT:

Background

Wolfram syndrome (WFS) is a rare autosomal recessive syndrome in which diabetes mellitus and neurodegenerative disorders occur as a result of Wolframin deficiency and increased ER stress. In addition, WFS1 deficiency leads to calcium homeostasis disturbances and can change mitochondrial dynamics. The aim of this study was to evaluate protein levels and changes in gene transcription on human WFS cell model under experimental ER stress.

Methods

We performed transcriptomic and proteomic analysis on WFS human cell model-skin fibroblasts reprogrammed into induced pluripotent stem (iPS) cells and then into neural stem cells (NSC) with subsequent ER stress induction using tunicamycin (TM). Results were cross-referenced with publicly available RNA sequencing data in hippo

SUBMITTER: Zmyslowska A 

PROVIDER: S-EPMC8605533 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature