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Using sno-lncRNAs as potential markers for Prader-Willi syndrome diagnosis

Jiu-Ru Sun1, Liang-Zhong Yang2, Yang-Li Dai3

  • 1Key Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Study, University of Chinese Academy of Sciences, Hangzhou, China.

RNA Biology
|July 5, 2023
PubMed

Insights

The absence of snoRNA-ended long noncoding RNA 3 (sno-lncRNA3) in blood samples can diagnose Prader-Willi syndrome (PWS). This RNA marker, detected via RT-qPCR or CRISPR, aids early PWS diagnosis and treatment.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of paternally expressed genes in chromosome 15q11-q13.
  • Early PWS diagnosis is crucial for effective treatment and symptom management.
  • Current PWS diagnosis primarily relies on DNA-level analysis, with limited RNA-level diagnostic tools.

Purpose of the Study:

  • To identify novel RNA-based diagnostic markers for Prader-Willi syndrome.
  • To evaluate the potential of snoRNA-ended long noncoding RNAs (sno-lncRNAs) from the SNORD116 locus as PWS biomarkers.
  • To develop and validate sensitive RNA detection methods for PWS diagnosis.

Main Methods:

  • Quantification of sno-lncRNA3 in whole blood and dried blood samples from PWS and non-PWS individuals using RT-qPCR.
  • Development of a CRISPR-MhdCas13c system for highly sensitive RNA detection.
  • Validation of sno-lncRNA3 detection using both RT-qPCR and CRISPR-MhdCas13c.

Main Results:

  • A cluster of sno-lncRNAs, specifically sno-lncRNA3, derived from the SNORD116 locus was identified as a potential diagnostic marker.
  • sno-lncRNA3 was quantified at approximately 6,000 copies/μL in non-PWS individuals.
  • sno-lncRNA3 was consistently absent in all tested PWS individuals (n=8 whole blood, n=35 dried blood) compared to controls (n=42 whole blood, n=24 dried blood).
  • The CRISPR-MhdCas13c system detected sno-lncRNA3 with a sensitivity of 10 molecules/μL, confirming its absence in PWS samples.

Conclusions:

  • The absence of sno-lncRNA3 in blood samples is a reliable indicator for PWS diagnosis.
  • RT-qPCR and CRISPR-MhdCas13c are effective, sensitive, and convenient methods for detecting sno-lncRNA3.
  • This RNA-based diagnostic approach facilitates early PWS detection using minimal blood samples.

Keywords:
CRISPR-Mhdcas13cPrader-Willi syndromeRNA detectionSno-lncRNA3Sno-lncRNAsdiagnostic markerdried blood spotwhole blood samples

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