Thursday, February 9, 2012

I Wish I Was a Dwarf!

This lengthy article is about a defective growth gene in people with rare dwarfism disorder that impedes their ability to get cancer and diabetes. This is truly miraculous considering how cancer and diabetes are two of the most common diseases that plague mankind.
Over the past few years, Jaime Guevara-Aguirre, has served as a physician in a small town in Ecuador where his patients stand at a mere 3'11". His patients have a rare genetic disorder known as Laron syndrome. A third of the world's population of people that have Laron syndrome reside in this remote village in Ecuador. What's so special about these cuties? Well, almost none of them suffer from cancer or diabetes!


This is a picture of Guevara-Aguirre (right) standing with one of his Laron syndrome patients.

These midgets have an error in their growth hormone receptor (GHR) gene which gives them their short stature. However, it also seems to keep them immune to diabetes and cancer! People who have this deficiency in growth hormone receptors are also unresponsive to growth hormone and have low levels of insulin-like growth factor 1 (IGF1). This is a hormone that promotes cell growth and inhibits programmed cell death.
Researchers conducted a series of experiments to investigate cellular response to IGF1. The studies set a precedent seeing as it was the first time that the GHR-deficiency mutation was being studied in humans. Because it is such a rare disorder, it was hard to study the subjects before. Results have shown that IGF1 can be regulated by diet aka IGF1 is an important determinant of cancer. 
In conclusion, mutations aren't always bad. Sure, people who have Laron syndrome are super short but hey, they will probably live longer and healthier lives than you will! Ain't that depressing :/

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