Understanding the N-acetyltransferase Enzyme Deficient in Mucopolysaccharidosis IIIC
Author Information
Author(s): Fan Xiaolian, Tkachyova Ilona, Sinha Ankit, Rigat Brigitte, Mahuran Don
Primary Institution: The Hospital For Sick Children, Toronto, Canada
Hypothesis
The study investigates the biosynthesis, processing, and kinetic mechanism of the N-acetyltransferase enzyme involved in Mucopolysaccharidosis IIIC.
Conclusion
The N-acetyltransferase enzyme is active as a precursor and does not require proteolytic processing to function.
Supporting Evidence
- The N-acetyltransferase enzyme is confirmed to be active in its precursor form.
- Contrary to previous reports, the enzyme does not require a specific processing step to function.
- The study provides new insights into the enzyme's kinetic mechanism, suggesting a random sequential mechanism.
Takeaway
This study shows that a specific enzyme related to a rare disease can work even before it is fully processed, which is different from what was previously thought.
Methodology
The study involved biochemical assays, Western blot analysis, and molecular size exclusion chromatography to analyze the enzyme's properties.
Limitations
The study may not account for all potential mutations affecting enzyme function in different populations.
Digital Object Identifier (DOI)
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