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Laminin α2 Chain-Deficiency is Associated with microRNA Deregulation in Skeletal Muscle and Plasma
Johan Holmberg1, Azra Alajbegovic1, Kinga Izabela Gawlik1
1Muscle Biology Unit, Department of Experimental Medical Science, University of Lund , Lund , Sweden.
Abstract:
microRNAs (miRNAs) are widespread regulators of gene expression, but little is known of their potential roles in congenital muscular dystrophy type 1A (MDC1A). MDC1A is a severe form of muscular dystrophy caused by mutations in the gene encoding laminin α2 chain. To gain insight into the pathophysiological roles of miRNAs associated with MDC1A pathology, laminin α2 chain-deficient mice were evaluated by quantitative PCR. We demonstrate that expression of muscle-specific miR-1, miR-133a, and miR-206 is deregulated in laminin α2 chain-deficient muscle. Furthermore, expression of miR-223 and miR-21, associated with immune cell infiltration and fibrosis, respectively, is altered. Finally, we show that plasma levels of muscle-specific miRNAs are markedly elevated in laminin α2 chain-deficient mice and partially normalized in response to proteasome inhibition therapy. Altogether, our data suggest important roles for miRNAs in MDC1A pathology and we propose plasma levels of muscle-specific miRNAs as promising biomarkers for the progression of MDC1A.
Insights
Congenital muscular dystrophy type 1A (MDC1A) involves deregulated microRNAs (miRNAs). Plasma levels of muscle-specific miRNAs are elevated in MDC1A mice, suggesting they are potential biomarkers.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- MicroRNAs (miRNAs) regulate gene expression but their role in congenital muscular dystrophy type 1A (MDC1A) is largely unknown.
- MDC1A is a severe genetic disorder caused by mutations in the laminin α2 chain gene.
Purpose of the Study:
- To investigate the pathophysiological roles of miRNAs in MDC1A.
- To identify potential miRNA biomarkers for MDC1A progression.
Main Methods:
- Quantitative PCR was used to analyze miRNA expression in laminin α2 chain-deficient mice.
- Plasma miRNA levels were measured in these mice.
Main Results:
- Muscle-specific miRNAs (miR-1, miR-133a, miR-206) and miRNAs associated with inflammation (miR-223) and fibrosis (miR-21) showed altered expression in MDC1A mice.
- Plasma levels of muscle-specific miRNAs were significantly elevated in MDC1A mice.
- Proteasome inhibition therapy partially normalized plasma miRNA levels.
Conclusions:
- MicroRNAs play significant roles in MDC1A pathology.
- Plasma levels of muscle-specific miRNAs are promising biomarkers for monitoring MDC1A progression.
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