Science Projects Project Guides Ask An Expert Blog Science Careers Teachers Parents Students

Improved understanding of the pathology of dwarfism may lead to new treatment targets

December 12, 2018
Pseudoachondroplasia (PSACH) is a severe inherited dwarfing condition In PSACH, a genetic mutation leads to abnormal retention of cartilage oligomeric matrix protein (COMP) within the endoplasmic reticulum (ER) of cartilage-producing cells (chondrocytes), which interferes with function and cell viability. In a report in The American Journal of Pathology, investigators describe how this protein accumulation results in 'ER stress' and initiates a host of pathologic changes. These findings may open up new ways to treat PSACH and other ER-stress-related conditions. Read more
Reading level: College
EurekAlert!, the online, global news service operated by AAAS, the science society
Please Give Us Feedback!

Why are you reading this article? (check all that apply)







How do you feel about science?







Send Feedback