A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

December 2014 in “ The American journal of pathology ”

Evgueni I. Kountikov, Jonathan C. Poe, Nancie J. Maclver, Jeffrey C. Rathmell, Thomas F. Tedder

desmoglein 3 hypomorphic protein expression immunodeficiency cyclic hair loss desmosome function pemphigus vulgaris

Studysummary This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.

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The study investigated mice with a spontaneous deletion in the desmoglein 3 gene, leading to a hypomorphic protein expression. These mice exhibited severe immunodeficiency, cyclic hair loss, obstructed airways, and wasting disease due to oral lesions and malnutrition. Genetic mapping identified a deletion causing a truncated desmoglein 3 protein, which resulted in more severe pathology than complete desmoglein 3 deficiency. This suggests that similar genetic alterations in humans could disrupt desmosome function and cause diseases distinct from pemphigus vulgaris.

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research Alopecia as a Rare but Distinct Manifestation of Pemphigus Vulgaris

23 citations , November 2011 in “Journal of the European Academy of Dermatology and Venereology”

This study observed that in pemphigus vulgaris patients, hair loss and alopecic patches may result from anti-desmoglein autoantibody-mediated acantholysis and inflammatory changes, leading to non-scarring alopecia with potential for regrowth after treatment.

research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

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research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

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This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus

38 citations , September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.

research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects

22 citations , March 1994 in “Journal of Heredity”

In this study, researchers identified a mutation in mice that causes hair loss and immune system issues, located on chromosome 18.