Mice Lacking Desmocollin 1 Show Epidermal Fragility Accompanied by Barrier Defects and Abnormal Differentiation

The study on mice lacking desmocollin 1 (Dsc1) demonstrated that the absence of this protein led to significant epidermal fragility, barrier defects, and abnormal differentiation. The research involved 308 pups, with 18% being homozygous for the disrupted allele, and revealed that these mice exhibited flaky skin, delayed weight gain, and a scruffy coat appearance. As they aged, symptoms worsened, with adult mice showing alopecia, ulceration, and hyperplastic epidermis. Despite normal desmosome structure, the epidermis was fragile, leading to increased permeability and barrier loss. The study concluded that Dsc1 was crucial for maintaining skin integrity, proper keratinocyte adhesion, and normal epidermal function, with potential implications for understanding human blistering diseases.