PMID- 31729045
OWN - NLM
STAT- MEDLINE
DCOM- 20200413
LR  - 20210110
IS  - 1097-4598 (Electronic)
IS  - 0148-639X (Print)
IS  - 0148-639X (Linking)
VI  - 61
IP  - 2
DP  - 2020 Feb
TI  - MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.
PG  - 253-257
LID - 10.1002/mus.26761 [doi]
AB  - 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.
CI  - (c) 2019 The Authors. Muscle & Nerve published by Wiley Periodicals, Inc.
FAU - Pegoraro, Valentina
AU  - Pegoraro V
AD  - IRCCS San Camillo Hospital, Venice, Italy.
FAU - Missaglia, Sara
AU  - Missaglia S
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universita 
      Cattolica del Sacro Cuore, Milan, Italy.
AD  - Department of Psychology, Universita Cattolica del Sacro Cuore, Milan, Italy.
FAU - Marozzo, Roberta
AU  - Marozzo R
AD  - IRCCS San Camillo Hospital, Venice, Italy.
FAU - Tavian, Daniela
AU  - Tavian D
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universita 
      Cattolica del Sacro Cuore, Milan, Italy.
AD  - Department of Psychology, Universita Cattolica del Sacro Cuore, Milan, Italy.
FAU - Angelini, Corrado
AU  - Angelini C
AD  - IRCCS San Camillo Hospital, Venice, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20191129
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
RN  - 0 (Biomarkers)
RN  - 0 (MicroRNAs)
RN  - EC 3.1.1.3 (Lipase)
RN  - EC 3.1.1.3 (PNPLA2 protein, human)
RN  - Neutral Lipid Storage Disease with Myopathy
SB  - IM
MH  - Age of Onset
MH  - Biomarkers/*blood
MH  - Female
MH  - Humans
MH  - Lipase/genetics
MH  - Lipid Metabolism, Inborn Errors/*blood/diagnostic imaging/*genetics
MH  - Liver/metabolism/pathology
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - MicroRNAs/*blood
MH  - Middle Aged
MH  - Muscle, Skeletal/diagnostic imaging
MH  - Muscular Diseases/*blood/diagnostic imaging/*genetics
MH  - Mutation/genetics
MH  - Siblings
MH  - Tomography, X-Ray Computed
PMC - PMC7004093
OTO - NOTNLM
OT  - PNPLA2
OT  - lipid metabolism
OT  - miRNAs
OT  - myomiRs
OT  - neutral lipid storage disease with myopathy
COIS- The authors have no conflicts of interest to declare.
EDAT- 2019/11/16 06:00
MHDA- 2020/04/14 06:00
PMCR- 2020/02/06
CRDT- 2019/11/16 06:00
PHST- 2019/07/25 00:00 [received]
PHST- 2019/10/29 00:00 [revised]
PHST- 2019/11/12 00:00 [accepted]
PHST- 2019/11/16 06:00 [pubmed]
PHST- 2020/04/14 06:00 [medline]
PHST- 2019/11/16 06:00 [entrez]
PHST- 2020/02/06 00:00 [pmc-release]
AID - MUS26761 [pii]
AID - 10.1002/mus.26761 [doi]
PST - ppublish
SO  - Muscle Nerve. 2020 Feb;61(2):253-257. doi: 10.1002/mus.26761. Epub 2019 Nov 29.