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Progeria

Progeria. Daniel McComas Period 6. The Aging Disease. What is it?. Progeria is the seemingly premature aging of a child. It is caused by a mutation in the LMNA gene, which codes for the Lamin A protein (a building block in a cell’s nuclear envelope).

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Progeria

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  1. Progeria Daniel McComas Period 6 The Aging Disease

  2. What is it? • Progeria is the seemingly premature aging of a child. • It is caused by a mutation in the LMNA gene, which codes for the Lamin A protein (a building block in a cell’s nuclear envelope). • Specifically, the LMNA gene undergoes a point mutation, with a cytosine nucleotide being replaced by a thymine nucleotide. • This results in a very unstable protein (in most cases, the protein becomes unstable to the point where the cell dies).

  3. Symptoms? • Liver Spots • Atherosclerosis • Kidney Failure • Wrinkled Skin • Fragile Bones • Cardiovascular Problems • Enlarged Forehead & Pinched Jaw • Limited Growth • Loss of Hair • Loss of Eyesight

  4. Who’s at risk? • Progeria is a completely random disease (the mutation can happen to any of the cytosine bases) that affects development from day one. • This means: • It can happen to anyone. • It affects all races equally. • If you don’t have it from birth, you will never get it.

  5. Can it be passed on? • Progeria, in fact, cannot be passed on. • Progeria is a mutation that occurs during the embryonic stage in development, meaning the parents do not pass it on to their children. • Children with progeria rarely live past the age of 13 and, because of their stunted growth, can’t procreate.

  6. Is there a cure? • Currently there is no way to cure progeria. • The only treatment essentially eases the patient’s pain until their body gives out and they die. • The treatment is pretty much to handle the symptoms as they come, not to lessen the actual affects of the disease. • Although there are only around 100 cases ever recorded worldwide, research is going on to find a cure by: • www.progeriaresearch.org/

  7. Sources • http://en.wikipedia.org/wiki/Progeria • www.progeriaresearch.org • www.ncbi.nlm.nih.gov • www.manbir-online.com/diseases/progeria.htm

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