Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature

June 2020 in “ The journal of investigative dermatology/Journal of investigative dermatology ”

Olivier Gouin, Claire Barbieux, Florent Leturcq, Mathilde Bonnet des Claustres, Evgeniya Petrova, Alain Hovnanian

kallikrein 14 KLK14 hair shaft defects desmoglein 3 desmoglein 4 epidermal differentiation IL-36A IL-17C inflammatory markers Netherton Syndrome

Studysummary This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome. Our plain-language summary of this paper — not a Tressless recommendation.

The study investigated the effects of overexpressing human kallikrein 14 (KLK14) in transgenic mice (TghKLK14) and found significant hair shaft defects and abnormal epidermal differentiation. These defects were linked to the degradation of desmoglein 3 and 4, essential for cell adhesion in the epidermis. Additionally, the mice exhibited increased expression of inflammatory markers such as IL-36A and IL-17C, indicating an inflammatory response. The findings suggested that KLK14 played a critical role in hair and skin pathology, offering potential insights into conditions like Netherton Syndrome. The study included multiple experiments with at least four mice per genotype, ensuring robust data.

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Research cited in this study

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research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype

87 citations , January 2017 in “PLoS Genetics”

This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.

research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation

35 citations , August 2009 in “Differentiation”

This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.

research Corneodesmosin Gene Ablation Induces Lethal Skin-Barrier Disruption and Hair-Follicle Degeneration Related to Desmosome Dysfunction

87 citations , July 2009 in “Journal of Cell Science”

The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.

research Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity

372 citations , December 2004 in “Nature Genetics”

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

50 citations , February 2004 in “Genomics”

This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.

research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair

36 citations , July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology”

This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.