Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

    January 2009 in “ Nature Genetics ”
    Yaran Wen, Yang Liu, Yiming Xu, Yiwei Zhao, Rui Hua, Kaibo Wang, Miao Sun, Yuanhong Li, Sen Yang, Xue Jun Zhang, Roland Kruse, Sven Cichon, Regina C. Betz, Markus M. Nöthen, M.A.M. van Steensel, Michel van Geel, P.M. Steijlen, Daniel Hohl, Marcel Huber, Giles Dunnill, Cameron Kennedy, A.G. Messenger, Colin S. Munro, Alessandro Terrinoni, Alain Hovnanian, Christine Bodemer, Y. De Prost, Amy S. Paller, Alan D. Irvine, Rodney Sinclair, Jack Green, Donghao Shang, Qing Liu, Yang Luo, Li Jiang, Hong Duo Chen, Wilson H.Y. Lo, W.H. Irwin McLean, Chun Di He, Xue Zhang
    Image of study
    TLDR Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
    In the 2009 study, researchers found that mutations in an inhibitory upstream open reading frame (uORF) of the human hairless (HR) gene transcript, designated U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), a form of genetic hair loss. The study included a large Chinese family and 18 additional families from various ancestral backgrounds. The U2HR is conserved among mammals and mutations in this region, such as loss of initiation, delayed termination codon, and nonsense and missense mutations, lead to increased translation of the main HR protein. This overexpression of HR protein due to the loss of U2HR's regulatory function is implicated in the pathogenesis of MUHH, suggesting that precise regulation of HR protein levels is vital for hair growth and maintenance.
    Discuss this study in the Community →

    Research cited in this study

    5 / 5 results

    Related Community Posts Join

    6 / 1000+ results

      community Creatine's effect on Hair Loss and DHT

      in Research/Science  102 upvotes 9 months ago
      A 21-year-old male managed to control his hair loss using Nizoral, RU58841, and finasteride, but experienced increased scalp itchiness after starting creatine, which subsided upon stopping creatine. Users shared mixed experiences on whether creatine affects hair loss, with some reporting negative effects and others seeing no change or defending its benefits.

      community Should I dedicate my university studies to solving hair loss?

      in Research/Science  373 upvotes 1 year ago
      A 20 year old male who is balding and considering switching to a biology/chemistry program in order to find a low-cost, accessible solution for hair loss. Replies discuss the merits of this idea as well as potential treatments such as Minoxidil, finasteride, RU58841, TM5614, and ADQ.

      community Does whey protein and creatine aggravate hair loss?

      in Research/Science  82 upvotes 1 year ago
      The conversation discusses whether whey protein and creatine worsen hair loss. Some users report hair loss with creatine use, while others do not; opinions on whey protein's effects are mixed. Treatments mentioned include PRP, minoxidil, and finasteride.

      community Testosterone in Reference Range Doesn't Cause Hair Loss

      in Research/Science  51 upvotes 10 months ago
      Testosterone within the normal range does not significantly contribute to male pattern baldness (MPB); DHT is the main factor that can be controlled. Genetics play a crucial role in hair loss, and treatments like finasteride and dutasteride, which block DHT, can help despite potentially raising testosterone levels.

      community PYRILUTAMIDE PHASE 3 RESULTS : No statistical significance

      in Research/Science  122 upvotes 1 year ago
      The phase 3 trial results for Pyrilutamide showed no significant difference from the control treatment in increasing hair count, leading to the company halting its development. Users discussed their disappointment and skepticism about hair loss treatments, with some mentioning other treatments like Minoxidil, Finasteride, and RU58841.

      community What would hair loss treatment be like in the 2030s?

      in Treatment  5 upvotes 5 months ago
      The conversation discusses future hair loss treatments, with mentions of dutasteride potentially gaining FDA approval and increased popularity. Skepticism remains about significant advancements due to limited funding and reliance on cosmetic companies.

    Related Research

    1 / 1 results