Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress.
The discovery of reliable and sensitive blood biomarkers is useful for the diagnosis, monitoring and potential future therapy of diseases. Recently, microRNAs (miRNAs) have been identified in blood circulation and might have the potential to be used as biomarkers for several diseases and clinical conditions. Myotonic Dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy primarily characterized by muscle myotonia, weakness and atrophy. Previous studies have shown an association between miRNAs and DM1 in muscle tissue and, recently, in plasma. The aim of this study was to detect and assess muscle-specific miRNAs as potential biomarkers of DM1 muscle wasting, an important parameter in the disease's natural history. Disease stable or progressive DM1 patients with muscle weakness and wasting were recruited and enrolled in the study. RNA isolated from participants' serum was used to assess miRNA levels. Results suggest that the levels of muscle-specific miRNAs are correlated with the progression of muscle wasting and weakness observed in the DM1 patients. Specifically, miR-1, miR-133a, miR133b and miR-206 serum levels were found elevated in DM1 patients with progressive muscle wasting compared to disease stable DM1 patients. Based on these results, we propose that muscle-specific miRNAs might be useful molecular biomarkers for monitoring the progress of muscle atrophy in DM1 patients.
Department of Molecular Genetics, Function & Therapy, Cyprus Institute of Neurology & Genetics, P.O. Box 2346, 1683 Nicosia, Cyprus.
Andrie
A
Koutsoulidou
Yale Center for Analytical Sciences,Yale School of Public Health, 300 George Street, Suite 555, New Haven, CT 06520, United States of America.
Tassos C
TC
Kyriakides
Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, 11528, Athens, Greece.
George K
GK
Papadimas
Neurology Clinic D, Cyprus Institute of Neurology & Genetics, P.O. Box 2346, 1683 Nicosia, Cyprus.
Yiolanda
Y
Christou
Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, 11528, Athens, Greece.
Evangelia
E
Kararizou
Neurology Clinic D, Cyprus Institute of Neurology & Genetics, P.O. Box 2346, 1683 Nicosia, Cyprus.
Eleni Zamba
EZ
Papanicolaou
Department of Molecular Genetics, Function & Therapy, Cyprus Institute of Neurology & Genetics, P.O. Box 2346, 1683 Nicosia, Cyprus.
Leonidas A
LA
Phylactou
D000328:Adult; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000097:blood*; D008875:Middle Aged; D018908:Muscle Weakness / Q000097:blood; D009223:Myotonic Dystrophy / Q000097:blood* / Q000503:physiopathology; D055815:Young Adult
D015415:Biomarkers; C544547:MIRN1 microRNA, human; C548234:MIRN133 microRNA, human; C546087:MIRN206 microRNA, human; D035683:MicroRNAs