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

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

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

6 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)253-257
Numero di pagine5
Stato di pubblicazionePubblicato - 2019


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


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