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A 'Decoy' Protein Could Cure Dwarfism

Researchers believe they’ve found a way to prevent achondroplasia, the most common form of dwarfism. 

Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. It prevents limb bones from growing to their full lengths.

Scientists at the Centre Méditerranéen de Médecine Moléculaire in France have discovered that introducing a decoy version of the protein prevents achondroplasia in mice.

What is Achondroplasia?

Faking Out FGFR3

Stéphanie Garcia and colleagues developed a synthetic form of FGFR3—sFGFR3—and injected it into mice with achondroplasia-like characteristics. They found that the synthetic protein kept the mutant gene receptor from functioning, which allowed bones to grow normally.

A parent with the FGFR3 gene mutation has a 50 percent of passing it on to his or her child. If both parents have the same mutation, there is a high likelihood the fetus will never come to full term. If it does, the baby will have achondroplasia dwarfism.

The mice treated with sFGFR3 had bones that grew to a typical length and died less often as pups, suggesting to researchers that if used in humans, the drug could make surgery to treat achondroplasia obsolete.

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Hope for a Cure?

While much more research is needed, Garcia and her team are hopeful their findings could result in a treatment for newborns with achondroplasia to prevent bone growth problems associated with dwarfism. Currently, there is no cure for dwarfism.

“These results describe a new approach for restoring bone growth and suggest that sFGFR3 could be a potential therapy for children with achondroplasia and related disorders,” researchers concluded in their study, published in the top journal Science.

A person is considered to have dwarfism if he or she is 4-feet, 10-inches or shorter in adulthood. It can be detected in-utero by an ultrasound scan. 

Emmy and Golden Globe-winning actor Peter Dinklage and Jackass star Jason “Wee Man” Acuña are two celebrities with dwarfism caused by achondroplasia.

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