Monday, November 21, 2016

Genetic Rationale for a 'Bad Hair Day'

Uncombable hair syndrome may sound a bit ludicrous at first; however, it is a very real condition that around one hundred people have suffered from, given the around 100 cases reported in the medical literature. This syndrome is typically only present in childhood, and grants the appearance of hair that appears to have been shocked by static electricity. A characteristic of the affected hair also tends to be light-blonde to strawberry-blonde hair that has a specific sheen to it.

Researchers have now discovered that this syndrome's genetic basis seems to stem from a common mutation. Researcher Regina Betz, from the University of Bonn, took a special interest in the basis of this syndrome while many researchers have yet to. As of scientific blogs and articles posted in year's past, one of the only and most common recurring theme scientists knew about this syndrome was that it affects one of the proteins in the hair follicle. Betz was able to find eleven children with this syndrome, and worked with a team of international researchers in order to sequence their DNA. Among their findings were three common mutations that correlated with this syndrome, found in the children's genomes. 

Image result for child with Uncombable hair syndrome

These genes all code for the structure of hair, including a protein that binds to keratin, a substance that is significant in the growth and health of our hair, nails, and skin; while the other two genes code for enzymes that would typically affect how keratin binds together in hair, again, an essential portion of hair. If any one of these three genes are not sequenced correctly, it results in abnormal growth of hair. resulting in the tangles and static-like appearance that defines this syndrome. This group of international researchers also bred mutations in the same genes in mice, that resulted in "mice rocking wavy coats and unnaturally curly whiskers" (Scharping 2016). These mutations do not pose any real threat to a child's well-being, just the appearance of their hair. 

I found this article to be extremely interesting, mostly due to the fact that it sounds so strange that this is a real syndrome. There are a variety of findings in science that surprise people everyday, and this was one of them. I'm very interested to see how this research extends, and if we will be able to understand more about the process of hair growth in the near future. 

1 comment:

  1. Why does this syndrome only present during childhood? How does the affected gene stop coding for abnormal hair growth as the child gets older? Also, it is interesting that this syndrome is most common in light and strawberry blonds. I think this may be due to linkage of genes controlling color and structure.