short and healthy

Twenty two years ago a group of researchers started studying a small village in South America. You might be asking yourself what's so interesting about this Ecuadorian village.

Well, it so happens that there's an unusually large percentage of people with Laron syndrome. A disease which involves mutations to the GHR (growth hormone receptor) gene. These mutations lead to severe GHR and IGF-1 (insulin like growth factor-1) deficiencies. Since insufficient growth hormone results in a failure to grow properly, this is a very height challenged group.

This study commenced in 1988, two years before the human genome project got underway. Back then we didn't have DNA microarrays to pinpoint which genes are being up and down regulated. Why am I mentioning this? Hell if I know.

In any case, the researchers commenced the project in an attempt to help the people with GHRD. But an interesting thing happened on the way to the forum.

These short people don't die of cancer or diabetes. Go figure. Their "normal" Ecuadorian counterparts (the control population) die of these things at a rate of 20% (cancer) and 5% (diabetes) despite the fact that the GHRD folk tend to be more obese on average (21% in GHRD vs 13.4% in control pop). Weird, huh?

Since the mortality of the GHRD group is much higher in children, it's not a good idea to artificially emulate the low growth hormone level from birth. However using drugs to partially block the binding site of HGH (human growth hormone) might be very helpful.

That's not what's typically done though. Most people who play around with HGH (it's available by prescription) are boosting their levels, usually for athletic reasons. Uh-oh!

For those interested in the science background, HGH is synthesized and secreted from the back of the pituitary gland and is regulated by the neurosecretory nuclei of the hypothalamus. Interesting, n'est pas?

If you want to read the paper, Growth Hormone Receptor Deficiency Is Associated with a Major Reduction in Pro-Aging Signaling, Cancer, and Diabetes in Humans, it was published in Science Translational Medicine this month. Just search for the lead author, Jaime Guevara-Aguirre.


tiff said…
Science rocks.

That is all.
Michael Manning said…
Amazing to read and consider the possibilities for research!

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