Wolfram syndrome, also referred to as DIDMOAD (diabetes Insipidus, d eiabetes mellitus, optic adecoration, and deafness), is a rare autosomal-recessive genetic illness which leads to childhood-onset diabetes mellitus, optic atrophy, along with deafness in addition to various other possible ailments.
It was initially described in four sisters in 1938 from Dr. Don J. Wolfram, M.D.. The disorder affects the central nervous system (particularly the brainstem).
Causes of Wolfram Syndrome
Wolfram syndrome was originally considered to be caused by mitochondrial dysfunction due to its outward symptoms and lots of reports of mitochondrial mutations. But, it’s now been demonstrated that Wolfram syndrome is brought on by endoplasmic reticulum dysfunction.
Two genetic forms are described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2).
WFS1
The WFS1 or even wolframin gene provides instructions for creating the wolframin protein. WFS1 gene is active in cells throughout the body, with strong activity in the heart, brain, lungs, inner ear, and pancreas. The pancreas supplies enzymes that help digest food, and in addition, it creates the hormone insulin. Insulin controls just how much glucose (a sort of sugar) is passed by the blood into cells for conversion to energy.
Within cells, wolframin is located in a structure called the endoplasmic reticulum. Among its many actions, the endoplasmic reticulum folds and modifies newly formed proteins in order that they have the right 3-dimensional contour to operate properly. The endoplasmic reticulum also helps transport fats, proteins, and other substances to certain sites within the cell or into the cell surface. The role of wolframin is unknown. According to its place from the endoplasmic reticulum, nevertheless, it might play a role in protein fold or mobile transport. From the pancreas, wolframin might assist fold a protein precursor of insulin (known as proinsulin) to the mature hormone that regulates blood sugar levels. Research findings also imply that wolframin might help preserve the right cellular degree of charged calcium atoms (calcium ions) by controlling how much is saved at the endoplasmic reticulum. At the inner ear, wolframin might help to maintain the appropriate levels of calcium ions or other charged particles that are crucial for hearing.
Treatment of Wolfram Syndrome
There is no known direct treatment. Current treatment efforts focus on managing the complications of Wolfram syndrome, such as diabetes mellitus and diabetes insipidus.
