Monday, December 1, 2014

Accelerated Aging Disorder Linked to a Genetic Mutation

Hutchinson-Gilford progeria syndrome is a genetic disorder that accelerates at which the person ages. Their bones become very fragile and some develop osteoporosis. The skin becomes wrinkle and elastic. Most become bald by a very young age. Their bodies are such like an older person. In addition, they do not become much taller than 3 feet. These children usually die by the age of 13. The data collected is limited due to the rarity of the disorder.

Dr. Francis Collins and Dr. W.Ted Brown have been doing research on this life threatening disease for many years. Recently, they determined that progeria is linked to a single gene mutation. The studies discovered that the patients carried the lamin A gene. This gene was determined to affect the aging process. It is hypothesis that the gene is produced by a flaw in the fathers sperm.


http://articles.latimes.com/print/2003/apr/17/science/sci-aging17

2 comments:

  1. This is a very sad disease, I recently watched a documentary following one of the researcher who had a kid with the disease. I am glad to know that the research has progressed and they have an explanation to why the disease occurs. hopefully they will be able to better understand how to treat the children with the disease.

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  2. It always excites me when there is a progression in research that has to do with finding a cure for any disease! However, I think this research is extraordinary because this disease affects children and its seems to me that they suffer until they pass, which is horrible. I hope these researchers continue finding information until they find a cure or way to prevent this disease from happening!

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