Intramembranous ossification

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  • What Is Achondroplasia?

    Achondroplasia is a genetic pattern inherited in a dominant pattern. It has one mutated gene in each cell that has the ability to cause achondroplasia however in most cases it streams from having a mutation randomly occur in the FGFR3 gene later in life. FGFR3 protein has many versions, which are found in different areas of the body. Many of these proteins are found in the cells that forms bone. FGFR3 is believed to regulate bone growth. Age can effects the mutation, therefore someone who develops achondroplasia later in life could pass a less severe case to their children. “Achondroplasia means without cartilage formation”(3), and is a Greek word. Achondroplasia is actually the most common type of dwarfism effecting almost 80% of all little people. Achondroplasia is often referred to as dwarfism or ACH. ACH is in a group called skeletal dysplasias. ACH has been effecting humans ever since we’ve existed. However ACH wasn’t discovered until 1944 by Dr. John Wasmuth. Achrondroplasia effects one in every 26,000 live births. In order to develop ACH you only need one parent with the mutated FGFR3 gene. Which would give you a 50% chance of inheriting ACH. “Children who inherit the mutated FGFR3 from both parents are more likely to die within the first year of life.”(4) People who have ACH usually have a normal intelligence level. Males that inherit ACH have an average size of about 4’3. However if ACH effects a female her average size will be about 4ft. In our bodies we have a…

    Words: 954 - Pages: 4
  • Skeletal Dysplasias Research Paper

    including achondroplasia. Achondroplasia is a form of short-limbed dwarfism which is caused by “failure of endochondral ossification due to a fibroblast growth factor receptor 3 mutation” (Vajo, Francomano, Wilkin, 2000). Some of these dyplasias can potentially be detected on an ultrasound as early as 20 weeks. The measurements the doctors look for on the ultrasound is the length of the humerus or femur. If the length of either of these limbs is less than the fifth percentile it is highly…

    Words: 999 - Pages: 4
  • Bone Remodeling

    (2010) as a necessary process in developing human-being body. It begins in foetus’ development then continues in boyhood and adolescence because of the growth of skeleton (Schulze et al., 2010). Otherwise, bone remodeling is seen as “life-long” process, involving in “resorption” (the old bone’s “breaking down”) and “ossification” (new bone’s forming) and is a core to shape and repair the skeleton and fractures of bone respectively. In bone, osteocytes, osteoblasts and osteoclasts are three…

    Words: 1254 - Pages: 6
  • Achondroplasia Case Study

    coded for arginine instead of glycine (G380R). Due to the change in amino acid, G380R causes a structural alteration that effects the ligation ability of FGF to FGFR3 (12, 13). Due to ligation ability being effected by structure transformation, the phosphorylation ability of FGFR3 becomes independent of FGF so that the tyrosine kinase activity of FGFR3 can be transduced autonomously. From the independence of ligation to activate the tyrosine kinase activity, more signals are being sent to the…

    Words: 1420 - Pages: 6
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