Diseases arising from mutations in intermediate filament (IF) genes affect various tissues due to the role of intermediate filaments in maintaining cell structure and integrity. Intermediate filaments are part of the cytoskeleton and include proteins like keratins, desmin, vimentin, neurofilaments, and lamins , each found in different tissues. Mutations in genes encoding these proteins can cause several genetic disorders, commonly affecting skin, muscle, nerves, and other tissues. 1. Keratins (found in epithelial cells) Epidermolysis Bullosa Simplex (EBS) : Caused by mutations in KRT5 and KRT14 genes that encode keratins 5 and 14. Characterized by fragile skin , where minor trauma causes blistering due to the weakening of cell adhesion in the basal layer of the epidermis. Pachyonychia Congenita : Mutations in KRT6A , KRT6B , KRT16 , or KRT17 lead to this disorder, marked by thickened nails, painful calluses , and oral lesions. These keratin mutations disrupt the integrity of ...
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