Achondroplasia Case Study

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Introduction

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
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These therapeutic experiments have led to the use of sFGFR3, statin, meclizine, and NVP-BGJ398, and BMN 111 as possible solutions (16-20). All of the possible cures to Achondroplasia take into account the different functions of FGFR3 and produce an anti function such as blocking receptor activation and inhibiting downstream signals (19). Moreover, the most promising method is the use of BMN 111, a CNP (C-type natriuretic peptide) analog. BMN 111 is a positive regulator of bone growth; moreover, BMN 111 promotes bone growth by inhibiting the MAPK (mitogen-activated protein kinase) pathway that is transmitted by FGFR3. Another feature of BMN 111 that allows it to promote positive regulation of bone growth for an extended period of time is due to its resistance from neutral-endopeptidase (NEP) (18,

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