22 Nov Three Genes Responsible For Uncombable Hair Syndrome
MedicalResearch.com Interview with:
Prof. Dr. Regina Betz and
Dr. Buket Basmanav Ünalan (first author)
Institute of Human Genetics
University of Bonn
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Up to know, the cause for uncombable hair was totally unknown. We identified now mutations in three genes, all being responsible for uncombable hair syndrome. Of interest, the corresponding proteins, namely, PADI3, TGM3 and TCHH, are all in the same cascade that is responsible for the formation and mechanical strengthening of the hair shaft.
MedicalResearch.com: What should readers take away from your report?
Response: Some previous case subject reports of uncombable hair had shown familial occurence suggesting the involvement of genetic factors in aetiology of this condition. Our study is actually the first to prove that this a genetically defined condition. Indeed, we show that having particular genetic defects affecting any of the components of a specific network of functionally related proteins is enough to acquire uncombable hair syndrome.
In other words, the particular mutations and defected genes can vary among the affected individuals but they all have the same phenotype in the end. However we would like to stress that there are a group of affected individuals in our cohort who do not have any mutations in these three genes. Therefore we believe that there are other genetic factors involved in aetiology of this condition and not all affected individuals should expect to have mutations in these three particular genes.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: Our findings have now paved the way for development of therapeutical approaches against UHS and perhaps even of cosmetic products to deal with unruly hair. Our own group, on the other hand, will continue to seek for additional molecular genetic causes of UHS with the hope that we can elucidate the complete genetic spectrum of this condition. It is also possible that other gene and protein networks emerge explaining the remaining proportion of molecularly unexplained cases of UHS. If that will be the case, we would like to look for correlations between the phenotypes and the particular protein networks. Such differences could have important therapeutic indications in the direction of personalized therapy.
MedicalResearch.com: Is there anything else you would like to add?
Response: There are so far about 100 published case subjects of UHS in literature which suggests that this is an extremely rare condition. However we believe that UHS is indeed more common than assumed while still being rare in comparison to other hair disorders such as male pattern baldness or alopecia areata. Since our study has been published we have been contacted by many parents with children who appear to suffer from UHS. This supports our initial suspicion about incidences of UHS. We are very happy that our findings now enable us to offer molecular diagnostic tests to those families for diagnosis of UHS and a better genetic counselling to respond to their questions.
Finally we would like to conclude by stressing that UHS is mostly an isolated condition of the hair and it improves with aging. So parents should not have health concerns for their children with UHS in the first place.
And, last but not least, we would like to emphasize, that this was a collaborative study from our group, the group around Prof. Michel Simon from Toulouse and many other dermatologists who contributed patients’ material, and we worked several years on this project.
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F. Buket Ü. Basmanav et al. Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. American Journal of Human Genetics, November 2016 DOI: 10.1016/j.ajhg.2016.10.004
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