09 Mar 2015 Wolfram syndrome may have relativ

09 Mar 2015
Wolfram syndrome may have relatives

Wolfram syndrome is called an “orphan disease” because it is so rare. However, based on the mechanisms of the disease, Wolfram syndrome may have relatives. I could identify several other rare diseases that are related to Wolfram syndrome. I call them “ endoplasmic reticulum disorders. ” By studying these other disorders, we may find novel treatments for Wolfram syndrome and other related disorders.

I am quite hopeful today. I hope you have a wonderful day.

Kindest regards,

Fumi Urano
http://wolframsyndrome.dom.wustl.edu/wolfram-...relatives/



Endoplasmic Reticulum Stress
The endoplasmic reticulum serves many general functions, including the folding of protein molecules and the transport of synthesized proteins in vesicles to the Golgi apparatus. Correct folding of newly made proteins is made possible by several endoplasmic reticulum chaperone proteins, including protein disulfide isomerase (PDI), ERp29, the Hsp70 family member BiP/Grp78, calnexin, calreticulin, and the peptidylpropyl isomerase family. Only properly folded proteins are transported from the rough ER to the Golgi apparatus. Disturbances in redox regulation, calcium regulation, glucose deprivation, and viral infection or the over-expression of protein can lead to endoplasmic reticulum stress (ER stress), a state in which the folding of proteins slows, leading to an increase in unfolded proteins. This stress is emerging as a potential cause of damage in hypoxia/ischemia, insulin resistance, and other disorders.

MANF has been identified as an Endoplasmic Reticulum Stress Response protein. MANF is selectively upregulated and secreted by a number of different cell types in response to cellular stress. MANF is hypothesized to assist with the proper folding and transport of proteins produced by cells under stress conditions.

http://www.amarantus.com/science/endoplasmic-...lum-stress

Cheers