A new step will allow to fight against achondroplasia or as it is popularly called dwarfism. Scientists belonging to the CSIC (Higher Council for Scientific Research) have just announced the relationship between the Snail1 gene and the development of the skeleton, as well as the possibility of developing new therapies that can, at least, slow the development of this genetic anomaly .
We can remember the case of Ainhoa, a girl who suffered from achondroplasia, in addition to suffering from this rare disease, she was forced to suffer the scarce means available to the school where she studied to integrate properly.
Achondroplasia It is a genetic disease marked by several defects of bone growth especially in the extremities, so they are much shorter than normal and have no relationship with the rest of the body. It is one of the most common causes of dwarfism and its incidence is estimated at one in 26,000 to 40,000 births. This serious problem can finally have its days counted. The increase in the activity of the gene mentioned above is related to the activity of the FGFR3 receptor (type 3 fibroblate growth receptor), that is, a mutation of this. Its operation is basically a message that sends to the nucleus of the cells telling them that they must mature without following the normal parameters of time, being a much faster maturation.
Researchers have found that human fetuses suffering from achondroplasia had greater activity of the Snail1 gene, this allows using the gene in question as a target for the development of appropriate therapies to combat the disease. Several years of work will allow us to limit another disease by improving the quality of life of children who may suffer from it.
