About this Research Topic
Wolfram syndrome (WS) is a rare genetic orphan disease that is considered a prototype of both endoplasmic reticulum and mitochondrial diseases. Classical WS features are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, neurological signs, and other abnormalities mainly due to progressive neurodegeneration. Two causative genes (WFS1 and WFS2) have been identified. Autosomal recessive transmission is most common, however autosomal dominant mutations responsible for WS-related disorders have also been described. Prognosis is poor, and death occurs at the median age of 39 years with the major cause being brainstem atrophy and consequent respiratory failure.
The aim of this research topic is to focus on current state-of-the-art studies and future perspectives encompassing WS disease pathogenesis, natural history, management and discussion on future therapeutic interventions.
Specific themes of interest, relating to WS type 1 and type 2, include but are not limited to:
• Disease pathogenesis and modelling
• Natural history and follow-up of patients
• Current and future treatment perspectives, including new or repurposed drugs and gene therapy, for any of the clinical features
All article types accepted by Frontiers are encouraged.
The aim of this research topic is to focus on current state-of-the-art studies and future perspectives encompassing WS disease pathogenesis, natural history, management and discussion on future therapeutic interventions.
Specific themes of interest, relating to WS type 1 and type 2, include but are not limited to:
• Disease pathogenesis and modelling
• Natural history and follow-up of patients
• Current and future treatment perspectives, including new or repurposed drugs and gene therapy, for any of the clinical features
All article types accepted by Frontiers are encouraged.
Keywords: Diabetes, Neurodegeneration, ER stress, Mitochondrial disease, Wolfram Syndrome, optic atrophy
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
