ntermediate filaments are found mainly in cells that are subject to mechanical stress. Gene mutations that disrupt intermediate filaments cause some rare human genetic diseases. For example, the skin of people with epidermolysis bullosa simplex is very susceptible to mechanical injury; people with this disorder have mutations in their genes, which code for the intermediatefilament found in epithelial cells. These filaments are usually connected from cell to cell through junctions called s. The main filaments found in muscle cells belong to the family; people with disruptions in these intermediate filaments can have muscular dystrophy. In the nervous system, s help strengthen the extremely long extensions often present in nerve cell axons; disruptions in these intermediate filaments can lead to neurodegeneration. People who carry mutations in the gene for , an important protein for cross-linking intermediate filaments, have a disease that combines symptoms of epidermolysis bullosa simplex, muscular dystrophy, and neurodegeneration. Humans with progeria, a disease that causes premature aging, carry mutations in a nuclear .
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ntermediate filaments are found mainly in cells that are subject to mechanical stress. Gene mutation...
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