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Improved understanding of the pathology of dwarfism may lead to new treatment targets
- December 17, 2018
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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. 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.
Cite This Article as
"Improved understanding of the pathology of dwarfism may lead to new treatment targets", MachPrinciple, December 17, 2018, https://machprinciple.com/post/Improved-understanding-of-the-pathology-of-dwarfism-may-lead-to-new-treatment-targets
