Deciphering the role of the immune system in Wolfram Syndrome type 1

Wolfram syndrome type 1 (WS1) is a multisystem disease whose main symptoms are infantile-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and mild to severe neurological signs. It is caused by a mutation of the WFS1 gene, which encodes the wolframin 1 (WFS1) protein. Although its function has yet to be fully understood, the loss-of-function of WFS1 causes cell death in specific cells, namely pancreatic beta cells and neurons. The biological basis of the syndrome is not yet clear and, at the moment, there are no approved specific treatments. Our preliminary studies have highlighted an important alteration of specific immune populations in WS1.

In this project, we aim to determine the impact of the WFS1 mutation on the immune system. For this purpose, we will use a mouse model of WS1 to study immune populations during disease progression and validate the data obtained in human cells. The results of our study will allow us to identify possible cell-specific molecular targets that in the future could be used to develop new possible treatments for people with WS1.