Applications
Rossi et al (2023) Elife
MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice
Rossi G, Ordazzo G, Vanni NN, Castoldi V, Iannielli A, Di Silvestre D, Bellini E, Bernardo L, Giannelli SG, Luoni M, Muggeo S, Leocani L, Mauri P, Broccoli V
Wolfram syndrome is a rare genetic disorder with mutations in the gene WFS1. The corresponding protein wolframin, a transmembrane protein located in the endoplasmic reticulum, is involved in multiple metabolic processes. Pa-tients suffer from several complications, including diabetes from infancy and progressive complete vision loss. Here, Rossi et al concentrated on the retinal phenotype in a Wolfram syndrome mouse model, to describe the progression of the disease and the underlying mechanisms.