INS-MODY is caused by heterozygous mutations in the gene that encodes preproinsulin, the biologically inactive precursor of the insulin protein. Mutations in the INS gene cause severe misfolding and intracellular accumulation of proinsulin, defective nuclear factor-kappa-light-chain-enhancer of activated B cells (NF-kappa B), and abnormal insulin biosynthesis. Consequently, prolonged endoplasmic reticulum stress activates the terminal unfolded protein response and leads to the induction of beta cell apoptosis. INS-MODY is characterized by reduced beta cell mass, progressive loss ofinsulin secretion, and variable-onset diabetes mellitus (PMID:33292863).
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