Essay On Achondroplasia

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achondroplasia (ACH) Achondroplasia (ACH) is a very rare (fewer than 20,000 US cases per year) yet the most common (occurring at one in every 15,000 to one in 40,000 live births) hereditary form of short-limbed dwarfism. Achondroplasia can be inherited from a parent with the disease, however most cases of ACH are because of new mutations in the FGFR3 gene. (Over 80% of people with ACH have parents who are unaffected). People with achondroplasia have a short stature and normal sized torso. An adult male with achondroplasia averages at about 131 centimeters (4 feet, 4 inches) in height, and adult females average at about 124 centimeters (4 feet, 1 inch) in height. Achondroplasia is medically diagnosed and cannot be cured. The word achondroplasia is literally defined as “without cartilage formation”. Cartilage is the tough yet flexible …show more content…

The FGFR3 protein spans across the cell membrane resulting in one end inside the cell and the other outside the cell allowing the protein to interact with growth factors outside the cell and receive signals for growth and development. The FGFR3 protein in the bone cells help control bone growth through a process previously mentioned called ossification, where cartilage is transformed into bone using calcium. When growth factors bind to the FGFR3, the protein is activated and FGFR3 is able to regulate ossification. When the Gly380Arg mutation occurs, it results in the FGFR3 protein being absent or damaged therefore preventing it from interacting with external growth factors causing the loss of control of ossification. This causes problems during bone development where cartilage fails to turn into bone. Despite this there are a few gene therapies that have proven to have an effect in bone growth development in children with

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