Urano, personal communication) is expected to counteract calcium leakage from the endoplasmic reticulum (ER). Second, the ryanodine receptor antagonist Dantrolene ( Identifier: NCT02829268 F. Moreover, an inverse association was measured between p21 cip expression and apoptosis 6. 6 analyzed WFS1 role in secretory granules from human neuroblastoma cells and showed that cell cycle assays showed reduced p21 cip protein levels in WFS1-depleted cells 6. First, Valproate is tested and expected to oppose the downregulation of p21 cip (T. They both target discrete endpoints of WFS1 deficiency, directly associated with cell death. However, identification of pathological molecular mechanisms has stimulated new approaches, and two clinical trials are currently initiated. The aim of the present review is to collect evidences showing that WS is indeed a mitochondriopathy, with established MAM dysfunction, and thus share commonalities with several neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis, as well as metabolic diseases, such as diabetes.Ĭlinically, patients with WS have benefited, up to now, essentially from symptomatic or substitutive therapies targeting the diabetes mellitus or diabetes insipidus. Two types of WS are characterized so far and Wolfram syndrome type 2 is due to mutation in CISD2, a protein mostly expressed in MAMs. ER contacts mitochondria to ensure effective Ca 2+ transfer, lipids transfer, and apoptosis within stabilized and functionalized microdomains, termed “mitochondria-associated ER membranes” (MAMs). However, the localization of the protein on the endoplasmic reticulum (ER) membrane challenged this hypothesis. WS was first described as a mitochondriopathy. Prognosis is poor, with death occurring around 35 years of age. Other symptoms may be identified in some but not all patients. Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness.
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