Abstract
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 originale | English |
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pagine (da-a) | 253-257 |
Numero di pagine | 5 |
Rivista | MUSCLE & NERVE |
Volume | 2020 |
DOI | |
Stato di pubblicazione | Pubblicato - 2019 |
Keywords
- PNPLA2
- lipid metabolism
- miRNAs
- myomiRs
- neutral lipid storage disease with myopathy