TLDR A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
The study identified APCDD1 as a novel inhibitor of the Wnt signaling pathway, which is mutated in hereditary hypotrichosis simplex (HHS), a form of hair loss. Genetic linkage analysis in three families with HHS revealed a mutation in the APCDD1 gene, which was shown to inhibit Wnt signaling and is expressed in human hair follicles. The mutation, Leu9Arg, disrupts the protein's processing and acts in a dominant-negative manner, affecting the stability and localization of the wild-type protein. Functional studies and in vivo experiments supported the conclusion that APCDD1 mutations lead to hair loss by increasing Wnt signaling, which is important for hair follicle development and cycling. This suggests that APCDD1 plays a crucial role in human hair growth and may be involved in other hair follicle disorders and Wnt-regulated biological processes.
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