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

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 p

SUBMITTER: Pegoraro V 

PROVIDER: S-EPMC7004093 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature