George Shuklin [creativecommons license] via Wikimedia Commons
Achondroplasia, the most common form of dwarfism, is characterized by short stature, short limbs and a relatively large head, sometimes resulting in problems with the spine and with hearing and breathing. It is caused by a mutation of the receptor FGFR3, which is involved in the development of bone and brain tissue. The mutation causes FGFR3 to be overstimulated by growth factors, preventing bone cells from maturing and impeding bone formation. Research now shows that in mice carrying the Fgfr3 mutation, a model of achondroplasia, injection of a ‘decoy’ receptor, sFGFR3, prevents growth factors from binding with the mutant receptor. The treatment restored normal bone growth, prevented skeletal defects and reduced mortality in the mutant mice (Sci. Transl. Med. 5, 203ra124; 2013).
Lab Anim. (NY) 42, 402 (2013).
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