This is an interesting piece from PLOS blog – genetic science behind “werewolf syndrome” (Ambras syndrome)
The author notes that hypertrichosis, mentioned in a recent paper in PLOS Genetics, was known historically as “werewolf syndrome.”
In the paper, geneticist Angela Christiano, PhD, and colleagues at Columbia University analyzed the genomes of a father and son with Ambras syndrome, a form of hypertrichosis – and found something intriguing about the causative mutation that has repercussions for genetic testing in general.
Sources say that Ambras syndrome affects fewer than one in a billion people, and that only 50 cases have been described since the Middle Ages.
The piece goes into the possible explanations for why people thought there were werewolves and what happened to people who had this syndrome in which they grew excessive hair all over their bodies including their faces. It’s a bit technical but still readable.
The paper concludes that the “findings uncover a novel transcriptional hierarchy that regulates epithelial proliferation in the developing hair follicle and contributes to the pathology of hypertrichosis.”
I found out a lot of new info. Including this tidbit: Jo-Jo the dog-faced man was the inspiration for Disney’s Beast. There is even a mention about Sasquatch in the comments. Hmm.
Here is the link to the research paper.
Trps1 and Its Target Gene Sox9 Regulate Epithelial Proliferation in the Developing Hair Follicle and Are Associated with Hypertrichosis