3′ Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1
Authors' conclusion
Our experiments showed that mRNA misfolding driven by these 3' UTR sequence-dependent structural elements was associated with normal 25OHD but abnormal 1,25(OH)2 D catabolism.
Study context
- Population
- Patients from metabolic and stone clinics with a single abnormality of no obvious cause or a combination of hypercalcemia, hypercalciuria and nephrolithiasis
- Participants
- 47 patients
- Outcome
- Molecular mechanisms of apparent HCINF1 without CYP24A1 coding mutation
Methodological detailsLC-MS/MS of serum vitamin D metabolites, direct sequencing, bioinformatics, CRISPR-Cas9 in vitro model, CRISPR-Cas9 in vitro mutant model developed for future CYP24A1 studies
- LC-MS/MS of serum vitamin D metabolites
- Direct sequencing
- Bioinformatics
- CRISPR-Cas9 in vitro model
- CRISPR-Cas9 in vitro mutant model developed for future CYP24A1 studies
Main finding
As reported in the abstract
- Patients with profiles characteristic of altered CYP24A1 function but no protein-coding CYP24A1 mutations
- 6
Original publication
3′ Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1. J Bone Miner Res. Published 23 January 2023. doi:10.
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