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What Are the Causes of Achondroplasia?

The FGFR3 Gene as an Achondroplasia Cause

Although achondroplasia can be inherited, 80 percent of all cases are the result of a sporadic mutation involving the gene encoding FGFR3, situated on chromosome 4.
 
The protein made by the gene is a receptor that regulates bone growth by limiting the formation of bone from cartilage (a process called ossification), particularly in the long bones. Researchers believe that mutations in the FGFR3 gene cause the receptor to be overly active, which interferes with ossification and leads to the disturbances in bone growth seen with this disorder.
 
This theory is supported by the knockout mouse model in which the receptor is absent, and so the negative regulation of bone formation is lost. The result is a mouse with excessively long bones and elongated vertebrae, resulting in a long tail. Achondroplastic mouse models are useful tools in developing potential treatments.
 
(Click Achondroplasia Genetics for more information about the link between achondroplasia and genetics.)
 
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