Fumihiko Urano, MD, PhD, the Samuel E. Schechter Professor of Medicine, was featured in the February 12 issue of Science. Dr. Urano, a renowned diabetes researcher, has studied a rare genetic condition called Wolfram syndrome.
Wolfram syndrome is a rare genetic condition characterized by childhood-onset diabetes mellitus, diabetes insipidus, a gradual loss of vision caused by optic atrophy, and deafness. It is a condition that affects many of the body’s systems.
Almost twenty years ago, Dr. Urano discovered a link between Wolfram syndrome and ER stress (a type of cell stress). In ER stress, misfolded proteins accumulate activating a response in the cell designed to correct the problem by making fewer proteins and eliminating the misfolded ones. But if the stress cannot be resolved, the cells self-destruct.
ER stress can contribute to several different diseases. In the case of Wolfram syndrome and diabetes, Urano believes that dysfunction within insulin-secreting cells causes ER stress, which in turn contributes to local inflammation and cell death.
Urano stated, “The link between ER stress and Wolfram syndrome has been crucial for identifying potential treatments because otherwise we would have nothing to target.”
The race to treat a rare, fatal syndrome may help others with common disorders like diabetes