Recent Patents on Achondroplasia: Latest Research Development
Basilio Colligris, Fernando Huete, Ana I. Guzman-Aranguez and Jesus Pintor
Affiliation: Departamento de Bioquímica y Biología Molecular IV, E.U. Óptica, Universidad Complutense de Madrid, C/Arcos de Jalón 118, 28037 Madrid, Spain.
Keywords: Achondroplasia, chondrocytes, chondrodystrophies, FGFR, hypochondroplasia, signaling pathways, thanatophoric
dysplasia, tyrosine kinase.
Achondroplasia (ACH) is the most common pathology of the group of disorders called chondrodysplasias. It is
resulting from a mutation in the Fibroblast Growth Factor Receptor type 3 (FGFR3) gene, one of the key regulators of endochondral
ossification and it is characterized by different degrees of short-limb dwarfism. The mutation of the FGFR3
receptor, leads to an over-activated receptor, producing important changes at the intracellular signaling level. The most
important changes are an accelerated rate of chondrocyte maturation leading to an altered extracellular matrix and an important
modification in the biochemical behavior of the cells. Subsequently, terminal hypertrophic cells undergo accelerated
apoptosis, which obstructs proper bone development and leads to the observed short stature phenotype. Even though,
the molecular mechanisms causing the disease are known since 1994, there is no effective solution found yet, due to difficulties
in the drug delivery phase but mainly because molecular events by which FGFR3 mediates its signaling are not
completely understood. In this article, we review and discuss the latest patents in this field, with their corresponding literature,
regarding future possible drugs for the treatment of this group of rare diseases. Some of these patents are concerning
potential medicines that entered or are about to enter clinical trials and possibly will be succeed as future drug therapies.
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