Question

Describe how loss of function mutations in protein disulfide isomerases and heat shock proteins would impact the ability of a cell to generate large quantities of functional proteins. What physiological impact would such changes have on cells or whole organisms?

Answer 1

Protein Disulfide isomerase and HSP-60 are both chaperone proteins which are present in ER and mitochondria respectively. They are associated with progression of tumour cells in the body. PDI acts as a folding enzyme and have thiol oxidorecductase activity and helps in disulfide bond formation, reduction and isomerization of its substrate. Heat shock proteins also helps in protein folding in different sites in the cell. If these two proteins loss their function, proper folding of proteins are affected which lead to development of cancer. They are found to be associated with breast cancer, prostate cancer, ovarian and bran cancer. They are thus considered as tumor markers and they are even target of cancer therapy.

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