The werewolf and his low fibroblast growth factor 13 levels

Petrus Gonsalvus, by anonymous
Petrus Gonsalvus, anonymous painting of the first recorded case of hypertrichosis in 1642. License: PD

Although they are very rare, werewolves do exist. And now the qualifier: werewolves as in people with excessive hair growth all over the body and not the more familiar kind that changes into a wolf every time there is a new moon. The condition is called hypertrichosis and its various forms have been associated with distinct genetic abnormalities.

In a previous report, DeStefano et al. (2013) identified the genetic locus of the X-linked congenital generalized hypertrichosis (CGH), which is a 19-Mb region on Xq24-27 that spans about 82 genes, resulting mainly from insertions from chromosomes 4 and 5. Now, they wanted to see what is the responsible mechanism for the disease. First, they looked at the hair follicles of a man afflicted with CGH that has hair almost all over his body and noticed some structural abnormalities. Then, they analyzed the expression of several genes from the affected region of the chromosome in this man and others with CGH and they observed that only the levels of the Fibroblast Growth Factor 13 (FGF13), a protein found in hair follicles, are much lower in CGH. Then they did some more experiments to establish the crucial role of FGF13 in regulating the follicle growth.

An interesting find of the study is that, at least in the case of hypertrichosis, is not the content of the genomic sequences that were added to chromosome X that matter, but their presence, affecting a gene that is located 1.2 Mb away from the insertion.

Reference: DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, & Christiano AM ( 7 May 2013, Epub 19 Apr 2013). Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proceedings of the National Academy of Sciences of the U.S.A., 110(19):7790-5. doi: 10.1073/pnas.1216412110. Article | FREE FULLTEXT PDF

By Neuronicus, 17 November 2015