Inherited defects in keratins
Section snippets
Keratins: basic biology
The cytoplasm of animal cells is structured by scaffolding composed of actin microfilaments, microtubules, and intermediate filaments. The largest group within the intermediate filament family is the keratins (types I and II intermediate filament proteins), which are expressed specifically in the cytoplasm of epithelial cells where they form a dense meshwork of 10-nm filaments (Fig. 1).1 In 1977, work on sheep wool keratins had suggested a classification of keratins into 2 subtypes. This
Genetic disorders due to mutations in human keratins
Since 1991, mutations in several keratin genes have been found to cause a variety of human diseases affecting the epidermis and other epithelial structures (Table 1). Epidermolysis bullosa simplex (EBS) was the first keratin disease to be identified with mutations in both the K5 and K14 genes rendering basal epidermal keratinocytes less resilient to trauma and resulting in skin fragility.7., 8., 9. Since mutations were identified in the basal cell keratins, the total number of keratin genes
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