Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

Llano‐Diez, Monica; Ortez, C.; Álvarez-Cabado, Lidia; Jou, Cristina; Medina, J.; Nascimento, A.; Jiménez‐Mallebrera, Cecilia

doi:10.1016/j.nmd.2016.11.003

Cited by 29 publications

(25 citation statements)

References 35 publications

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“…miR-30c was detected at higher levels in patients with better preserved motor function estimated by North Star Ambulatory Assessment (NSAA) and 6MWT, whereas miR181-a concentration was higher in patients with difficulties to climb and descend stairs, but it was not statistically significant. 117 Both observations were, however, not statistically significant. Similar results were obtained also from the analysis of miR-1, miR-206, miR-31, miR-133a and miR-133b in ambulant and non-ambulant patients, indicating lack of correlation with NSAA score.…”

Section: Recent Findings On Dmd Biomarkersmentioning

confidence: 82%

“…Several reports confirm the discovery of elevated miRNA blood levels in DMD patients in comparison to healthy individuals. miR-1, miR-30c, miR-31, miR-133, miR-181, 117 miR-206, miR-208a, miR-208b and miR-499 117 – 120 are elevated in serum, whereas miR-95 121 is elevated in plasma. In contrast, miR-549 is less abundant in plasma from DMD patients compared to controls.…”

Section: Recent Findings On Dmd Biomarkersmentioning

confidence: 97%

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Biomarkers of Duchenne muscular dystrophy: current findings

Szigyarto¹,

Spitali²

2018

DNND

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Numerous biomarkers have been unveiled in the rapidly evolving biomarker discovery field, with an aim to improve the clinical management of disorders. In rare diseases, such as Duchenne muscular dystrophy, this endeavor has created a wealth of knowledge that, if effectively exploited, will benefit affected individuals, with respect to health care, therapy, improved quality of life and increased life expectancy. The most promising findings and molecular biomarkers are inspected in this review, with an aim to provide an overview of currently known biomarkers and the technological developments used. Biomarkers as cells, genetic variations, miRNAs, proteins, lipids and/or metabolites indicative of disease severity, progression and treatment response have the potential to improve development and approval of therapies, clinical management of DMD and patients’ life quality. We highlight the complexity of translating research results to clinical use, emphasizing the need for biomarkers, fit for purpose and describe the challenges associated with qualifying biomarkers for clinical applications.

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Section: Recent Findings On Dmd Biomarkersmentioning

confidence: 82%

Section: Recent Findings On Dmd Biomarkersmentioning

confidence: 97%

Biomarkers of Duchenne muscular dystrophy: current findings

Szigyarto¹,

Spitali²

2018

DNND

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“…Serum levels of six muscle-specific miRNAs (miR-1, miR-206, miR-133, miR-499, miR-208a, and miR-208b, also known as myomiRs) were analyzed by Li et al [ 132 ] and found to be all elevated in DMD patients. More recently, digital reverse transcription polymerase chain reaction (RT-PCR) was employed for quantification of miR-30c and miR-181a and validated for detection of these DMD serum biomarkers [ 34 ]. According to this and similar studies, a limited and validated list of “dystromirs” (miR-1, miR-133a, miR-133b, miR-206, and miR-31) have been proposed as serum biomarkers not only for monitoring the disease severity in DMD [ 27 ], but also to monitor progression of the disease and response to therapies [ 26 ].…”

Section: Examples Of Non-coding Rnas In Rare Genetic Diseasesmentioning

confidence: 99%

MicroRNAs and Long Non-coding RNAs in Genetic Diseases

et al. 2019

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Since the discovery and classification of non-coding RNAs, their roles have gained great attention. In this respect, microRNAs and long non-coding RNAs have been firmly demonstrated to be linked to regulation of gene expression and onset of human diseases, including rare genetic diseases; therefore they are suitable targets for therapeutic intervention. This issue, in the context of rare genetic diseases, is being considered by an increasing number of research groups and is of key interest to the health community. In the case of rare genetic diseases, the possibility of developing personalized therapy in precision medicine has attracted the attention of researchers and clinicians involved in developing “orphan medicinal products” and proposing these to the European Medicines Agency (EMA) and to the Food and Drug Administration (FDA) Office of Orphan Products Development (OOPD) in the United States. The major focuses of these activities are the evaluation and development of products (drugs, biologics, devices, or medical foods) considered to be promising for diagnosis and/or treatment of rare diseases or conditions, including rare genetic diseases. In an increasing number of rare genetic diseases, analysis of microRNAs and long non-coding RNAs has been proven a promising strategy. These diseases include, but are not limited to, Duchenne muscular dystrophy, cystic fibrosis, Rett syndrome, and β-thalassemia. In conclusion, a large number of approaches based on targeting microRNAs and long non-coding RNAs are expected in the field of molecular diagnosis and therapy, with a facilitated technological transfer in the case of rare genetic diseases, in virtue of the existing regulation concerning these diseases.

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“…The role of miRNAs in the regulation of key biological processes in skeletal muscle is well-established (9) and they serve as diagnostic, prognostic biomarkers, and as molecular outcome measures in various biomedical fields (10,11). Previously, our group used gene network analysis to identify two miRNAs, miR-30c, and miR-181a and validated them as reliable serum diagnostic biomarkers for DMD (12). Also, there is a group of miRNAs called dystromirs (miR-1, miR-133a, miR-133b, miR-31, and miR-206) that are muscle-specific and elevated in the serum of DMD patients (13).…”

Section: Introductionmentioning

confidence: 99%

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

et al. 2020

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Our objective was to investigate the potential of three microRNAs, miR-181a-5p, miR-30c-5p, and miR-206 as prognostic biomarkers for long-term follow up of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients. We analyzed the expression of three microRNAs in serum of 18 patients (DMD 13, BMD 5) and 13 controls using droplet digital PCR. Over 4 years a minimum of two and a maximum of three measurements were performed at different time points in the same patient. Correlations between microRNA serum levels, age, and functional outcome measures were analyzed. We show the individual evolution of the levels of the three microRNAs in 12 patients and also the effect of corticosteroid treatment on microRNAs expression. We measure the expression of three microRNAs in the muscle of six DMD patients and also the expression of target genes for miR-30c. We found that levels of miR-30c and miR-206 remained significantly elevated in DMD patients relative to controls over the entire study length. The introduction of the corticosteroid treatment did not significantly influence the levels of these microRNAs. We report a trend for microRNA levels to decrease with age. Moreover, miR-206 expression levels are capable to distinguish DMD from BMD patients according to ROC analysis. We found miR-30c expression decreased in the muscle of DMD patients and marked upregulation of the target genes for this microRNA. MiR-30c and miR-206 represent sensitive biomarkers for DMD, while miR-206 may have an additional value to distinguish the DMD and BMD phenotype. This may be particularly relevant to assess the effectiveness of treatments aimed at converting the DMD to the less-severe BMD like phenotype.

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Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

Cited by 29 publications

References 35 publications

Biomarkers of Duchenne muscular dystrophy: current findings

Biomarkers of Duchenne muscular dystrophy: current findings

MicroRNAs and Long Non-coding RNAs in Genetic Diseases

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

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