Sunday, July 27, 2014

Tetra-Amelia Syndrome 

Tetra-Amelia Syndrome is a birth defect people are born with where they are missing all four limbs and is a very rare occurrence. I myself have friends who where born missing a limb or have an extra limb, but nothing to the extreme of missing all four limbs. I was always curious as to why they where born that way, but never really took the time to study it until this class. From taking this class I've learned why people are born certain ways and are able to really understand the in-depth characteristics of why. I chose to talk about Tetra-Amelia Syndrome for the one reason listed above and because many other topics of interest where already taken.

In this human biology class we have learned about dominant and recessive traits that people inherit that affect them throughout life and dictate things they have no control over such as red hair, but we've also learned about how science is progressing and are able to change these inherited traits to stop unwanted ones. Tetra- Amelia Syndrome is an autosomal recessive pattern of inheritance which means that the parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Amelia may be present as an isolated defect, but it is often associated with major malformations in other organ systems. These frequently include cleft lip and/or palate, body wall defects, malformed head, and defects of the neural tube, kidneys, and diaphragm. This condition is just like others we have learned about in class that we receive through are parents and nothing we do can change that, except genetic testing. Todays technology can allow doctors and scientists to test the parents for this gene and give them a percentage that there child with carry two pairs of the gene and have this syndrome or others. The gene involved in this syndrome is the WNT3 gene. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome.

Hopefully one day science will be to the point where people aren't born with this defects and can live normal lives. There's nothing more inspirational though then someone with a birth defect overcoming it and doing great things or just living life to the fullest.

Below is a link to a video of a woman with tetra-Amelia syndrome and in this video I found it amazing that this woman had such a great since of humor and enjoyed life so much with such a hard thing to live with. enjoy

YouTube Video on Joanne O'Riordan

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