French researchers fool a dysfunctional gene to stimulate regular bone growth in young mice with 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.
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.
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.
Photo: Peter Dinklage speaking at the 2013 San Diego Comic Con International. Courtesy of Gage Skidmore via Wikimedia Commons.