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Abstract
Duchenne muscular dystrophy (DMD) is a progressive hereditary muscular disease with X-linked recessive inheritance, that leads patients to premature death. The loss of dystrophin determines membrane instability, causing cell damage and inflammatory response. Macrophage migration inhibitory factor (MIF) is a cytokine that exerts pleiotropic properties and is implicated in the pathogenesis of a variety of diseases. Recently, converging data from independent studies have pointed to a possible role of MIF in dystrophic muscle disorders, including DMD. In the present study, we have investigated the modulation of MIF and MIF-related genes in degenerative muscle disorders, by making use of publicly available whole-genome expression datasets. We show here a significant enrichment of MIF and related genes in muscle samples from DMD patients, as well as from patients suffering from Becker’s disease and limb-girdle muscular dystrophy type 2B. On the other hand, transcriptomic analysis of in vitro differentiated myotubes from healthy controls and DMD patients revealed no significant alteration in the expression levels of MIF-related genes. Finally, by analyzing DMD samples as a time series, we show that the modulation of the genes belonging to the MIF network is an early event in the DMD muscle and does not change with the increasing age of the patients, Overall, our analysis suggests that MIF may play a role in vivo during muscle degeneration, likely promoting inflammation and local microenvironment reaction.
Highlights
Duchenne muscular dystrophy (DMD) is a progressive hereditary muscular disease with X-linked recessive inheritance, with an incidence ranging from 10.71 to 27.78 live-born males per year per100,000 [1], and worldwide estimated prevalence of 4.78 per 100,000 [1]
We have found that migration inhibitory factor (MIF), as well as the receptor CD74, CD44 and CXCR4 are significantly upregulated in DMD
This may be relevant in light of the fact that, even if both CXCR4 and CXCR2 converge to CD74 and
Summary
Duchenne muscular dystrophy (DMD) is a progressive hereditary muscular disease with X-linked recessive inheritance, with an incidence ranging from 10.71 to 27.78 live-born males per year per100,000 [1], and worldwide estimated prevalence of 4.78 per 100,000 [1]. Duchenne muscular dystrophy (DMD) is a progressive hereditary muscular disease with X-linked recessive inheritance, with an incidence ranging from 10.71 to 27.78 live-born males per year per. The natural progression of the disease includes hypertrophy of cardiac muscle and diaphragmatic contraction impairment, that leads patients to premature death [2]. The pathogenesis of DMD depends on the absence or altered forms of the dystrophin protein. This protein is essential for muscular growth and function. It acts as a scaffold in the subsarcolemmal space protein complex and binds the actin, bridging the extracellular and intracellular space [3,4].
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