MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy

Valentina Pegoraro, Sara Missaglia, Roberta Marozzo, Daniela Tavian, Corrado Angelini

Research output: Contribution to journalArticlepeer-review


Background: Neutral lipid storage disease with myopathy (NLSDM) is a rare lipid metabolism disorder. In this study, we evaluated some circulating miRNAs levels in serum samples and the MRI of three affected siblings. Methods: Three members of one NLSDM family were identified: two brothers and one sister. Muscles of lower and right upper extremities were studied by MRI. Expression profile of miRNAs, obtained from serum samples, was detected using qRT-PCR. Results: Two brothers presented with progressive skeletal myopathy, while the sister had severe hepatosteatosis and diabetes. NLSDM patients showed a significant increase of muscle-specific miRNAs expression compared with healthy subjects. We found a correlation between hepatic damage and elevation of miRNAs expression profile of liver origin. Conclusions: The dysregulation of miRNAs might represent an indicator of skeletal and hepatic damage and it might be useful to monitor the progression of NLSDM.

Original languageEnglish
JournalMuscle and Nerve
Publication statusAccepted/In press - Jan 1 2019


  • lipid metabolism
  • miRNAs
  • myomiRs
  • neutral lipid storage disease with myopathy
  • PNPLA2

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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