Monday, February 18, 2008

Syndromes 3: of Cyclops and Skin Cancer!Sonic_hedgehog_pathway.pngCorn Lily, False Hellebore (Veratrum californicum)Chemical structure of cyclopamine the Cyclops.

Gorlin's syndrome patients can have enormous numbers of skin cancers known as BCC's - "Basal Cell Carcinomas". They also have characteristically widely-spaced eyes (hypertelorism)- along with numerous onther problems including palmar pits, jaw cysts, splayed ribs etc.

The syndrome is due to a mutation in a gene known as PTCH. This codes for a receptor that binds a protein that is critical for embryonal development. This particular protein has the unusual name of "Sonic Hedgehog" - named after the Sega video game character! (If you discover something, you get to name it).(see red sqiggle in diagram above).

Too much activity of "Hedgehog" and you get the widely spaced eyes and skin cancer of Gorlin's syndrome- BUT too little and you get to be a "Cyclops" - at least for a few months of gestation.

Following investigation of a number of cyclopic calfs in Idaho in the 60's, it was discovered that the cows had been grazing on a native weed containing a teratogenic alkaloid - now known as Cyclopamine.

Some bright sparks are now rubbing it into skin cancers- but not those on pregnant women.

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