2014
DOI: 10.1016/j.ajpath.2014.07.021
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Abstract: Duchenne muscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000 boys. The golden retriever muscular dystrophy dog is the best clinically relevant DMD animal model. Here, we used a high-thoughput miRNA sequencing screening for identification of candidate serum miRNA biomarkers in golden retriever muscular dystrophy dogs. We confirmed the dysregulation of the previously described muscle miRNAs, miR-1, miR-133, miR-206, and miR-378, and identified a new candidate mu… Show more

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Cited by 81 publications
(80 citation statements)
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“…Concomitantly, it was discovered that miRNA molecules are stably expressed in body liquids and might potentially be used as disease biomarkers2324. Subsequently, we and others have assessed the expression patterns of blood serum and plasma miRNAs and identified their dysregulation in DMD animal models and patients2526272829303132, supporting thus the capacity of circulating miRNAs as biomarkers in DMD.…”
mentioning
confidence: 74%
See 1 more Smart Citation
“…Concomitantly, it was discovered that miRNA molecules are stably expressed in body liquids and might potentially be used as disease biomarkers2324. Subsequently, we and others have assessed the expression patterns of blood serum and plasma miRNAs and identified their dysregulation in DMD animal models and patients2526272829303132, supporting thus the capacity of circulating miRNAs as biomarkers in DMD.…”
mentioning
confidence: 74%
“…Consequently, the pathological mechanism of diseases with loss of DAPC integrity such as DMD or sarcoglycanopathies involved loss of membrane stability and sealing capacity as well as perturbation in signal transduction. Indeed, the dysregulation of miRNAs in DMD patient and animal models2526272829303132 was proposed to result, in the serum, from increased leakiness of the sarcolemma30, and within the muscle tissue, from disruption of a DAPC-dependent signal transduction51. However, it remained unclear if and to what extend miRNA dysregulation occurs in the serum in MDs with preserved DAPC and DAPC-dependent signal transduction.…”
Section: Discussionmentioning
confidence: 99%
“…One report showed miR-31 is associated with muscle regeneration and miR-223 is associated with inflammatory infiltration following muscle injury (Greco et al, 2009); another showed proof-of-principle that miR-31 can inhibit dystrophin in vitro (Cacchiarelli et al, 2011). Furthermore, previous studies of serum miRNAs show the extent of miRNA dysregulation is linked to age and a disease progression (Jeanson-Leh et al, 2014; Vignier et al, 2013)…”
Section: Discussionmentioning
confidence: 98%
“…Moreover, such circulating miRNAs can be delivered to recipient cells, where they can control translation of target mRNAs (56,57). Specific miRNA signatures have been described in a large collection of skeletal muscle diseases (58)(59)(60)(61)(62) and neuromuscular disorders such as ALS (63). In DMD patients and mdx mice in particular, many miRNAs, including several myomiRs (miR-1, miR-133, and miR-206), are released into the blood (59,64).…”
Section: Circulating Ncrnas As Biomarkersmentioning
confidence: 99%