The Predominant Disease Of Mutant Fgfr3 Essay
1420 Words Nov 3rd, 2016 6 Pages
The predominant disease that mutant FGFR3 (fibroblast growth factor receptor 3) gene causes is Achondroplasia. Furthermore, Achondroplasia means the absence of chondrocyte formation in bones. Additionally, the transformation of chondrocytes into bone cells is prevalent in the limbs as well as the facial bones of humans (1). Therefore, the predominant symptom of Achondroplasia is bone growth retardation and is found in the limbs as well as facial bones. The majority of people diagnosed with Achondroplasia have parents that are genotypically and phenotypically normal for the FGFR3 gene; moreover, this means that the FGFR3 mutation was not inherited from the parents but arose as a de novo mutation. However, once diagnosed with Achondroplasia it can be transmitted to offspring in a dominant manner. A dominantly transmitted mutation only needs one mutant in the genotype to be expressed in the phenotype (2-4). Due to Achondroplasia having a dominant FGFR3 mutation, the probability of offspring that will be affected will be higher compared to if Achondroplasia was only expressed if a homozygous recessive mutation of FGFR3 was present.
Molecular Basis of the Disease
The fundamental structure of FGFR3 must be understood before one can relate it to Achondroplasia. Therefore, FGFR3 consists of a transmembrane helix dimer complex contains an N-terminal turn 369-371 proceeded by two stable regions 310- and α-helical transmembrane regions 372–378 and 379–398. These regions…