ArticleMolecular diagnosis & therapy2016
Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.
Article in Molecular diagnosis & therapy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Urea cycle dysregulation: a new frontier in cancer metabolism and immune evasion.Cell communication and signaling : CCS · 2025Review
- Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Cysteamine revisited: repair of arginine to cysteine mutations.Journal of inherited metabolic disease · 2017Review
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCysteamine is used to treat cystinosis via the modification of cysteine residues substituting arginine in mutant proteins.
objectivesWe investigated the effect of cysteamine on mutant argininosuccinate lyase (ASL), the second most common defect in the urea cycle.
methodsIn an established mammalian expression system, 293T cell lysates were produced after transfection with all known cysteine for arginine mutations in the ASL gene (p.Arg94Cys, p.Arg95Cys, p.Arg168Cys, p.Arg379Cys, and p.Arg385Cys), allowing testing of the effect of cysteamine over 48 h in the culture medium as well as for 1 h immediately prior to the enzyme assay.
resultsCysteamine at low concentrations showed no effect on 293T cell viability, ASL protein expression, or ASL activity when applied during cell culture. However, incubation of transfected cells with 0.05 mM cysteamine immediately before the enzyme assay resulted in increased ASL activity of p.Arg94Cys, p.Arg379Cys, and p.Arg385Cys by 64, 20, and 197 %, respectively, and this result was significant (p < 0.01). Cell lysates carrying p.Arg385Cys and treated with cysteamine recover enzyme activity that is similar to the untreated designed mutation p.Arg385Lys, providing circumstantial evidence for the assumed cysteamine-induced change of a cysteine to a lysine analogue.
conclusionSince 12 % of all known genotypes in ASL deficiency are affected by a cysteine for arginine mutation, we conclude that the potential of cysteamine or of related substances as remedy for this disease should be investigated further.
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