TLDR Lack of cystatin M/E causes thin hair and dry skin.
The study investigated the role of the cysteine protease inhibitor cystatin M/E, encoded by the CST6 gene, in hair and skin diseases. Genetic analysis of two related patients with hypotrichosis revealed a homozygous c.361C>T (p.Gln121*) variant in CST6, leading to a premature stop codon. This mutation was associated with symptoms like hypotrichosis, eczema, blepharitis, photophobia, and impaired sweating. Functional assays showed that the mutant cystatin M/E could not inhibit its target proteases (legumain and cathepsins L and V). The findings highlighted the critical role of cystatin M/E in maintaining epidermal homeostasis and hair follicle development.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
146 citations
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May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
35 citations
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January 2011 in “Journal of Biological Chemistry” sPLA2-X is crucial for normal hair growth and follicle health.
16 citations
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December 2015 in “Journal of Investigative Dermatology” Alopecia areata involves persistent gene abnormalities and immune activity, even in regrown hair, suggesting a risk of relapse.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
7 citations
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December 2020 in “Pharmaceutics” A mix of tocopherol acetate and L-menthol helps grow hair better than using them separately or using minoxidil.
