Circulating Micro-RNAs in Patients With Hypophosphatasia: Results of the First Micro-RNA Analysis in Hypophosphatasia (HPP)
Authors' conclusion
These findings highlight a profound involvement of multiple organ systems and the potential of miRNAs as biomarkers for the effect of HPP on various systems.
Study context
- Population
- Adults with HPP
- Participants
- 24 vs 24
- Comparison
- Adult HPP patients vs healthy controls
- HPPn = 24
- Controls (CTRL)n = 24reference
- Outcome
- Circulating cell-free miRNA profiles and associations with clinical characteristics
Methodological detailsuntargeted miRNA discovery by small RNA-sequencing, RT-qualitative PCR validation
- Untargeted miRNA discovery by small RNA-sequencing
- RT-qualitative PCR validation
Main finding
As reported in the abstract
MicroRNAs (miRNAs) significantly differently expressed between HPP and CTRL by next-generation sequencing (P < .05)
84
miRNAs selected for RT-qualitative PCR validation
14
Selected miRNAs verified by RT-qualitative PCR (P < .05): miR-122-3p, miR-140-5p, miR-143-3p, miR-155-5p, miR-451a, miR-92a-3p
6 of 14
Observational data: associations, not effects.
Further findings
Age
P = 0.980
Females
P = 1.000
Correlations of miRNAs with biochemical markers
- miRNAs correlated with alkaline phosphatase levels
- 37
- miRNAs correlated with pyridoxal-5'-phosphate
- 3
Clinical characteristics of HPP patients
- Musculoskeletal pain
- 91%
- Diffuse neurological symptoms
- 41%
- History of fractures
- 64%
Original publication
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