Wolfram Syndrome 1: From Genetics to Therapy
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: closed (15 September 2023) | Viewed by 2806
Special Issue Editor
Special Issue Information
Dear Colleagues,
Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. The main clinical features are diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D), hence the acronym DIDMOAD. It is frequently complicated by other symptoms, such as urinary tract, endocrinological, psychiatric, and neurological abnormalities. Early onset nonautoimmune insulin-dependent DM and bilateral OA are key clinical criteria for the diagnosis of WS1. WS1 is caused by mutations in the WFS1 gene located on chromosome 4p16, which encodes a transmembrane protein named wolframin. Wolframin plays a key role in the regulation of ER calcium homeostasis and, therefore, in cellular apoptosis. More than 200 mutations are responsible for WS1.
Many patients exhibit abnormal phenotypes of WS with or without DM. In these cases, WFS1 mutations are inherited in an autosomal dominant mode. Furthermore, recessive Wolfram-like diseases without DM have been described.
Unfortunately, the prognosis of WS1 is poor, and death occurs prematurely. However, careful clinical monitoring during the rapid progression of the disease can be helpful to patients in improving their quality of life.
Currently, there are no therapies that can slow down or stop the clinical complications of WS1. However, many experimental studies have concentrated on the development of new therapies for WS1.
This Special Issue focuses on the molecular pathology of Wolfram syndrome 1 and explores potential treatment options from the perspective of genetics. For any of these topics, this Special Issue is open to contributions, in the form of both review and research articles.
Dr. Luciana Rigoli
Guest Editor
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Keywords
- Wolfram syndrome 1
- WFS1
- diabetes insipidus
- diabetes mellitus
- optic atrophy
- deafness
- genetics
- therapy
