Thelansis

Wolfram syndrome, also known by the acronym DIDMOAD, is an inherited condition typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss. Etiology- The two types of Wolfram syndrome (type 1 and type 2) are primarily differentiated by their genetic cause.  Variations (mutations) in the WFS1 gene are responsible for about 90% of Wolfram syndrome type 1 cases. This gene encodes wolframin, an essential protein for the endoplasmic reticulum's proper functioning (the part of a cell involved in protein production, processing, and transport). Wolframin helps regulate the amount of calcium in cells, which is essential for many different cellular functions. A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays a vital role in the m...