Question
Describe any five diseases resulting from mutations in intermediate filament genes.
Answer :
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Skip in 10
Intermediate filaments (IFs) are essential cytoskeletal components that provide structural support, mechanical strength, and organization within cells. Mutations in genes encoding intermediate filament proteins can disrupt cell integrity and lead to a variety of human diseases, often tissue-specific depending on the IF type. One well-known example is Epidermolysis Bullosa Simplex (EBS), caused by mutations in the KRT5 or KRT14 genes, which encode keratin proteins in basal epidermal cells. These mutations weaken the keratin network, resulting in skin fragility and blister formation upon minor mechanical stress. Another disorder is Dilated Cardiomyopathy associated with mutations
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