Mandibulofacial Dysostosis With Alopecia Results From ETAR Gain-Of-Function Mutations Via Allosteric Effects On Ligand Binding

    January 2023 in “ Journal of Clinical Investigation ”
    Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Véronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara
    TLDR Specific mutations in a receptor cause facial abnormalities and hair loss.
    The study identifies gain-of-function mutations in the endothelin receptor type A (ETAR), specifically p.E303K and p.Y129F, as causes of mandibulofacial dysostosis with alopecia (MFDA). These mutations enhance the receptor's affinity for endothelin 3 (ET3), leading to craniofacial abnormalities and alopecia. Mouse models with these mutations showed similar changes, which were partially reversed by deleting ET3, indicating the mutations' effects are largely ET3-dependent. The research highlights the role of allosteric effects in GPCR function and suggests potential drug targets for treating MFDA.
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