Resumen de Una aproximación farmacológica al tratamiento de la acondroplasia
Ana I. Guzmán Aránguez, Marta Irazu, Teresa Peláez, Almudena Crooke, Jesús Sánchez Nogueiro, Jesús Pintor
Achondroplasia is a pathology due to a mutation in the receptor for the fibroblast growth factor type 3 (FGFR3). This alteration produces problems in individuals� stature as well as other muscle-skeletal problems. The application of nucleotides and dinucleotides permit achondroplasic cells (chondrocytes) to recover, aparently, from this pathology. In particular, the application of the dinucleotide Ap4A, permits to restore the correct calcium levels in achondroplasic cell. Moreover, this dinucleotide permits the right degradation of the FGFR3 receptor, which does not downregulate properly in achondropasic chondrocytes, by facilitating the proteosomal and lysosomal pathways alter the dinucleotide application. Also we have discovered that the pyridoxal phosphate derivative PPADS can dramatically reduce the activation of ERK casacade which is abnormaly elevated by the achondroplasic FGFR3 receptor raising the pathology. In summary, we wish to introduce a series of new pharmacological strategies for the treatment of achondroplasia in clear contrast with the current surgery ones.
