Wolfram Syndrome: a Monogenic Model to Study Diabetes Mellitus and Neurodegeneration
| Autor: | Barbara E. Ehrlich, Tom T. Fischer |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
endocrine system diseases Physiology Hearing loss Wolfram syndrome Mechanism (biology) business.industry Neurodegeneration nutritional and metabolic diseases Optic nerve atrophy Disease medicine.disease Bioinformatics Article 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Physiology (medical) Diabetes mellitus Diabetes insipidus medicine medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Curr Opin Physiol |
| Popis: | Wolfram syndrome (WS) is a rare, progressive disorder characterized by childhood-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and neurodegeneration. Currently, there is no effective treatment for WS, and patients typically die between 30 and 40 years of age. WS is primarily caused by autosomal recessive mutations in the Wolfram syndrome 1 (WFS1) gene (OMIM 222300), which encodes for wolframin (WFS1). This disorder is therefore a valuable monogenic model for prevalent diseases, particularly diabetes mellitus and neurodegeneration. Whereas reduced survival and secretion are known cellular impairments causing WS, the underlying molecular pathways and the physiological function of WFS1 remain incompletely described. Here, we characterize WFS1 as a regulator of intracellular calcium homeostasis, review our current understanding of the disease mechanism of WS, and discuss candidate treatment approaches. These insights will facilitate identification of new therapeutic strategies not only for WS but also for diabetes mellitus and neurodegeneration. |
| Databáze: | OpenAIRE |
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