Publication Date

Spring 5-3-2021

School

School of Health Sciences

Major

Biology: Biomedical Sciences

Keywords

Achondroplasia, Review, Meclizine, Treatment, Murine

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diseases | Medicine and Health Sciences

Abstract

Arising from mostly de novo mutations, achondroplasia (ACH) is one of the most common, non-lethal forms of chondrodysplasia. The short stature indicative of ACH stems from a gain of function mutation within the complex FGFR3 signaling pathway—mutations mitigating the too-rapid ossification of cartilage to bone. Meclizine, an FDA-approved drug long prescribed for motion sickness, halts such a conversion and allows the reconstitution of chondrodysplasia cell lines in attempts at following a normal growth pattern. Evinced by various cell line rescues as well as increased long bone growth, it can be hypothesized that maternally administered meclizine can rescue the ACH phenotype enough to attenuate the largest danger to ACH infants, foramen magnum stenosis (FMS).

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