Topic: Cobalamin-C defect

Cobalamin-C defect is the most common inborn error of intracellular cobalamin metabolism. The nonsense mutation, c.394C>T (R132*), resulting in truncated protein, was common in North Indian cohort. Based on the location of mutation, it can be targeted for readthrough drug therapeutics for restoring the MMACHC activity. We created stable mammalian cell lines expressing wildtype (WT) and mutant (R132*) MMACHC protein to check the efficacy of readthrough drugs. WT cDNA clone of MMACHC gene was purchased and mutant clone (R132*_MMACHC) was prepared by site-directed mutagenesis. WT and R132*_MMA