Xeroderma Pigmentosum

Medical Topic of the Day:  Remember yesterdays's topic?  Well we are going to sort of continue in that direction.  This is a terrible genetic hereditary condition.

My Research Today:  Xeroderma pigmentosum, hereby referred to as XP for the sake of brevity is technically an autosomal recessive genetic disorder of your body's natural DNA repair system.  More specifically it interferes with your ability to repair damage caused by ultraviolet light I.E. the sun.

The most common deficit is a mutation of nucleotide excision repair enzymes.  These enzymes are responsible for repair of DNA caused by ultraviolet rays.  Nucleotide excision repair enzymes cut out sections of damaged or malformed DNA and then a DNA polymerase fills in the gap.  The polymerase copies an intact DNA strand to make that missing chunk whole again.  It is pretty damn amazing.

That is a kid with xeroderma pigmetosum.

You can see how an inability to do this would lead to many problems including disfigurement.  The inability to repair damaged DNA leads to early onset of actinic keratoses and then skin cancers.  Individuals who suffer from this disorder live short, relatively painful lives.  40% do not live past 20 years-old.  That doesn't just suck donkey D, it chokes on it.

This is a kid with a UV protection suit.  That sucks

Such individuals unlucky enough to have this disorder are imprisoned to a life of avoiding the sun at all costs, sometimes referred to as the Children of the Night. As my friend Skylar points out the children in The Others film with Nicole Kidman have this affliction which would be exceedingly rare unless her husband was Japanese. The disease can effect all races and sexes but is six times more common in Japanese heritage.

There is no official treatment for the disorder other than to avoid UV rays at all costs. Your lifespan is limited to the technology available to achieve this.

Well that is all for tonight. Another shout out to Skylar for the topic suggestion. Have a good night.

Quest To 180:
6 miles on my bike, 7K steps.

The MAN:
I don't even know.