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Published on: August 10, 2018
Deregulated microRNAs in myotonic dystrophy type 2
Simona Greco1, Alessandra Perfetti, Pasquale Fasanaro
1IRCCS-Policlinico San Donato, Milan, Italy.
Plos One
|July 7, 2012
Summary
Myotonic Dystrophy Type-2 (DM2) involves altered microRNA (miRNA) expression in skeletal muscles. These miRNA changes, impacting gene regulation, may play a role in DM2 disease development.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Myotonic Dystrophy Type-2 (DM2) is a multisystemic genetic disorder caused by CCTG repeat expansion.
- MicroRNA (miRNA) expression is known to be disrupted in related myopathies, suggesting a potential role in DM2 pathogenesis.
Purpose of the Study:
- To investigate microRNA (miRNA) deregulation in skeletal muscle of DM2 patients.
- To explore the functional relevance of identified miRNA dysregulations in DM2 pathophysiology.
Main Methods:
- Analysis of skeletal muscle biopsies from 13 DM2 patients and 13 controls.
- Global gene expression profiling and bioinformatic analysis of miRNA-mRNA interactions.
- Pathway and functional analysis of deregulated genes.
Main Results:
- Eleven miRNAs showed altered expression levels in DM2 patients compared to controls (9 upregulated, 4 downregulated).
- Bioinformatic analysis predicted over 1,000 miRNA-mRNA interactions.
- Deregulated miRNAs and their mRNA targets are involved in multiple pathways relevant to DM2.
Conclusions:
- MicroRNA (miRNA) dysregulation is a feature of Myotonic Dystrophy Type-2 (DM2).
- These miRNA alterations likely contribute to the complex pathogenetic mechanisms underlying DM2.
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