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Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies

Limb-girdle muscular dystrophy (LGMD) is a rare neuromuscular disease including a growing and heterogeneous number of subtypes with variable phenotype. Their clinical and histopathological characteristics frequently overlap with other neuromuscular dystrophies. Our goal was to identify, by a non-inv...

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Published in:Orphanet journal of rare diseases 2022-12, Vol.17 (1), p.450-450, Article 450
Main Authors: García-Giménez, José Luis, García-Trevijano, Elena R, Avilés-Alía, Ana I, Ibañez-Cabellos, José Santiago, Bovea-Marco, Miquel, Bas, Teresa, Pallardó, Federico V, Viña, Juan R, Zaragozá, Rosa
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creator García-Giménez, José Luis
García-Trevijano, Elena R
Avilés-Alía, Ana I
Ibañez-Cabellos, José Santiago
Bovea-Marco, Miquel
Bas, Teresa
Pallardó, Federico V
Viña, Juan R
Zaragozá, Rosa
description Limb-girdle muscular dystrophy (LGMD) is a rare neuromuscular disease including a growing and heterogeneous number of subtypes with variable phenotype. Their clinical and histopathological characteristics frequently overlap with other neuromuscular dystrophies. Our goal was to identify, by a non-invasive method, a molecular signature including biochemical and epigenetic parameters with potential value for patient prognosis and stratification. Circulating miRNome was obtained by smallRNA-seq in plasma from LGMD patients (n = 6) and matched-controls (n = 6). Data, validated by qPCR in LGMD samples, were also examined in other common muscular dystrophies: Duchenne (DMD) (n = 5) and facioscapulohumeral muscular dystrophy (FSHD) (n = 4). Additionally, biochemical and clinical parameters were analyzed. miRNome analysis showed that thirteen differentially expressed miRs could separate LGMD vs control group by hierarchical clustering. Most of differentially expressed miRs in LGMD patients were up-regulated (miR-122-5p, miR-122b-3p, miR-6511a-3p, miR-192-5p, miR-574-3p, mir-885-3p, miR-29a-3p, miR-4646-3p, miR-203a-3p and miR-203b-5p) whilst only three of sequenced miRs were significantly down-regulated (miR-19b-3p, miR-7706, miR-323b-3p) when compared to matched controls. Bioinformatic analysis of target genes revealed cell cycle, muscle tissue development, regeneration and senescence as the most affected pathways. Four of these circulating miRs (miR-122-5p, miR-192-5p, miR-19b-3p and miR-323b-3p), together with the myomiR miR-206, were further analysed by qPCR in LGMD, DMD and FSHD. The receiver operating characteristic curves (ROC) revealed high area under the curve (AUC) values for selected miRs in all groups, indicating that these miRs have good sensitivity and specificity to distinguish LGMD, DMD and FSHD patients from healthy controls. miR-122-5p, miR-192-5p and miR-323-3p were differentially expressed compared to matched-controls in all groups but apparently, each type of muscular dystrophy showed a specific pattern of miR expression. Finally, a strong correlation between miRs and biochemical data was only found in LGMD patients: while miR-192-5p and miR-122-5p negatively correlated with CK, miR-192-5p positively correlated with vitamin D3 and ALP. Although limited by the small number of patients included in this study, we propose here a specific combination of circulating miR-122-5p/miR-192-5p/miR-323-3 and biochemical parameters as a potential molecular s
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Their clinical and histopathological characteristics frequently overlap with other neuromuscular dystrophies. Our goal was to identify, by a non-invasive method, a molecular signature including biochemical and epigenetic parameters with potential value for patient prognosis and stratification. Circulating miRNome was obtained by smallRNA-seq in plasma from LGMD patients (n = 6) and matched-controls (n = 6). Data, validated by qPCR in LGMD samples, were also examined in other common muscular dystrophies: Duchenne (DMD) (n = 5) and facioscapulohumeral muscular dystrophy (FSHD) (n = 4). Additionally, biochemical and clinical parameters were analyzed. miRNome analysis showed that thirteen differentially expressed miRs could separate LGMD vs control group by hierarchical clustering. Most of differentially expressed miRs in LGMD patients were up-regulated (miR-122-5p, miR-122b-3p, miR-6511a-3p, miR-192-5p, miR-574-3p, mir-885-3p, miR-29a-3p, miR-4646-3p, miR-203a-3p and miR-203b-5p) whilst only three of sequenced miRs were significantly down-regulated (miR-19b-3p, miR-7706, miR-323b-3p) when compared to matched controls. Bioinformatic analysis of target genes revealed cell cycle, muscle tissue development, regeneration and senescence as the most affected pathways. Four of these circulating miRs (miR-122-5p, miR-192-5p, miR-19b-3p and miR-323b-3p), together with the myomiR miR-206, were further analysed by qPCR in LGMD, DMD and FSHD. The receiver operating characteristic curves (ROC) revealed high area under the curve (AUC) values for selected miRs in all groups, indicating that these miRs have good sensitivity and specificity to distinguish LGMD, DMD and FSHD patients from healthy controls. miR-122-5p, miR-192-5p and miR-323-3p were differentially expressed compared to matched-controls in all groups but apparently, each type of muscular dystrophy showed a specific pattern of miR expression. Finally, a strong correlation between miRs and biochemical data was only found in LGMD patients: while miR-192-5p and miR-122-5p negatively correlated with CK, miR-192-5p positively correlated with vitamin D3 and ALP. Although limited by the small number of patients included in this study, we propose here a specific combination of circulating miR-122-5p/miR-192-5p/miR-323-3 and biochemical parameters as a potential molecular signature whose clinical value for LGMD patient prognosis and stratification should be further confirmed in a larger cohort of patients.</description><identifier>ISSN: 1750-1172</identifier><identifier>EISSN: 1750-1172</identifier><identifier>DOI: 10.1186/s13023-022-02603-3</identifier><identifier>PMID: 36575500</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Analysis ; Care and treatment ; Circulating miRs ; Diagnosis ; Duchenne muscular dystrophy ; Epigenetic inheritance ; Facioscapulohumeral muscular dystrophy ; Genetic aspects ; Humans ; Limb girdle muscular dystrophies ; Magnetic resonance imaging ; Methods ; MicroRNA ; MicroRNAs - genetics ; Molecular signature ; Muscular Dystrophies, Limb-Girdle - genetics ; Muscular dystrophy ; Muscular Dystrophy, Facioscapulohumeral - genetics</subject><ispartof>Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.450-450, Article 450</ispartof><rights>2022. 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Their clinical and histopathological characteristics frequently overlap with other neuromuscular dystrophies. Our goal was to identify, by a non-invasive method, a molecular signature including biochemical and epigenetic parameters with potential value for patient prognosis and stratification. Circulating miRNome was obtained by smallRNA-seq in plasma from LGMD patients (n = 6) and matched-controls (n = 6). Data, validated by qPCR in LGMD samples, were also examined in other common muscular dystrophies: Duchenne (DMD) (n = 5) and facioscapulohumeral muscular dystrophy (FSHD) (n = 4). Additionally, biochemical and clinical parameters were analyzed. miRNome analysis showed that thirteen differentially expressed miRs could separate LGMD vs control group by hierarchical clustering. Most of differentially expressed miRs in LGMD patients were up-regulated (miR-122-5p, miR-122b-3p, miR-6511a-3p, miR-192-5p, miR-574-3p, mir-885-3p, miR-29a-3p, miR-4646-3p, miR-203a-3p and miR-203b-5p) whilst only three of sequenced miRs were significantly down-regulated (miR-19b-3p, miR-7706, miR-323b-3p) when compared to matched controls. Bioinformatic analysis of target genes revealed cell cycle, muscle tissue development, regeneration and senescence as the most affected pathways. Four of these circulating miRs (miR-122-5p, miR-192-5p, miR-19b-3p and miR-323b-3p), together with the myomiR miR-206, were further analysed by qPCR in LGMD, DMD and FSHD. The receiver operating characteristic curves (ROC) revealed high area under the curve (AUC) values for selected miRs in all groups, indicating that these miRs have good sensitivity and specificity to distinguish LGMD, DMD and FSHD patients from healthy controls. miR-122-5p, miR-192-5p and miR-323-3p were differentially expressed compared to matched-controls in all groups but apparently, each type of muscular dystrophy showed a specific pattern of miR expression. Finally, a strong correlation between miRs and biochemical data was only found in LGMD patients: while miR-192-5p and miR-122-5p negatively correlated with CK, miR-192-5p positively correlated with vitamin D3 and ALP. Although limited by the small number of patients included in this study, we propose here a specific combination of circulating miR-122-5p/miR-192-5p/miR-323-3 and biochemical parameters as a potential molecular signature whose clinical value for LGMD patient prognosis and stratification should be further confirmed in a larger cohort of patients.</description><subject>Analysis</subject><subject>Care and treatment</subject><subject>Circulating miRs</subject><subject>Diagnosis</subject><subject>Duchenne muscular dystrophy</subject><subject>Epigenetic inheritance</subject><subject>Facioscapulohumeral muscular dystrophy</subject><subject>Genetic aspects</subject><subject>Humans</subject><subject>Limb girdle muscular dystrophies</subject><subject>Magnetic resonance imaging</subject><subject>Methods</subject><subject>MicroRNA</subject><subject>MicroRNAs - genetics</subject><subject>Molecular signature</subject><subject>Muscular Dystrophies, Limb-Girdle - genetics</subject><subject>Muscular dystrophy</subject><subject>Muscular Dystrophy, Facioscapulohumeral - genetics</subject><issn>1750-1172</issn><issn>1750-1172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNptkl2L1DAUhoso7jr6B7yQgDcKds1Hk7Q3wrB-DQwKq16HNDnpZGmbmrS6-y_8yWZ21mUHJIQkJ895k3N4i-I5wWeE1OJtIgxTVmJK8xSYlexBcUokxyUhkj68tz8pnqR0iXHFGa4fFydMcMk5xqfFn42FcfbOGz37MKLgkPHRLH0-jh0a_MWXdULWOwdxD-q-v0ZwNUVICSzyI5oymW8S-u3nHdr6oS07H20Pb9D7xexgHAGFiJw2PiSjp6UPu2WAqHs0LGn_UkT2Os0xTDsP6WnxyOk-wbPbdVX8-Pjh-_nncvv10-Z8vS0NF81cghW64lQyEFA7oC2FBqjjmrYGdANYmga0tK6uMOG6lY4wWVWiadsKjDZsVWwOujboSzVFP-h4rYL26iYQYqd0nL3pQdUMOJMSWwmuolA1uhGM17klRhDLSNZ6d9CalnYAa3I7cnlHosc3o9-pLvxSjWwYz2NVvLoViOHnAmlWg08G-l6PEJakqOQNznXUdUZfHtBO56_50YWsaPa4WktGKsaEqDJ19h8qDwuDN2EE53P8KOH1UUJmZriaO72kpDbfLo5ZemBNDClFcHeVEqz2zlQHZ6rsTHXjTMVy0ov7PbpL-WdF9hd8muIP</recordid><startdate>20221227</startdate><enddate>20221227</enddate><creator>García-Giménez, José Luis</creator><creator>García-Trevijano, Elena R</creator><creator>Avilés-Alía, Ana I</creator><creator>Ibañez-Cabellos, José Santiago</creator><creator>Bovea-Marco, Miquel</creator><creator>Bas, Teresa</creator><creator>Pallardó, Federico V</creator><creator>Viña, Juan R</creator><creator>Zaragozá, Rosa</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-8280-5838</orcidid></search><sort><creationdate>20221227</creationdate><title>Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies</title><author>García-Giménez, José Luis ; 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Their clinical and histopathological characteristics frequently overlap with other neuromuscular dystrophies. Our goal was to identify, by a non-invasive method, a molecular signature including biochemical and epigenetic parameters with potential value for patient prognosis and stratification. Circulating miRNome was obtained by smallRNA-seq in plasma from LGMD patients (n = 6) and matched-controls (n = 6). Data, validated by qPCR in LGMD samples, were also examined in other common muscular dystrophies: Duchenne (DMD) (n = 5) and facioscapulohumeral muscular dystrophy (FSHD) (n = 4). Additionally, biochemical and clinical parameters were analyzed. miRNome analysis showed that thirteen differentially expressed miRs could separate LGMD vs control group by hierarchical clustering. Most of differentially expressed miRs in LGMD patients were up-regulated (miR-122-5p, miR-122b-3p, miR-6511a-3p, miR-192-5p, miR-574-3p, mir-885-3p, miR-29a-3p, miR-4646-3p, miR-203a-3p and miR-203b-5p) whilst only three of sequenced miRs were significantly down-regulated (miR-19b-3p, miR-7706, miR-323b-3p) when compared to matched controls. Bioinformatic analysis of target genes revealed cell cycle, muscle tissue development, regeneration and senescence as the most affected pathways. Four of these circulating miRs (miR-122-5p, miR-192-5p, miR-19b-3p and miR-323b-3p), together with the myomiR miR-206, were further analysed by qPCR in LGMD, DMD and FSHD. The receiver operating characteristic curves (ROC) revealed high area under the curve (AUC) values for selected miRs in all groups, indicating that these miRs have good sensitivity and specificity to distinguish LGMD, DMD and FSHD patients from healthy controls. miR-122-5p, miR-192-5p and miR-323-3p were differentially expressed compared to matched-controls in all groups but apparently, each type of muscular dystrophy showed a specific pattern of miR expression. Finally, a strong correlation between miRs and biochemical data was only found in LGMD patients: while miR-192-5p and miR-122-5p negatively correlated with CK, miR-192-5p positively correlated with vitamin D3 and ALP. Although limited by the small number of patients included in this study, we propose here a specific combination of circulating miR-122-5p/miR-192-5p/miR-323-3 and biochemical parameters as a potential molecular signature whose clinical value for LGMD patient prognosis and stratification should be further confirmed in a larger cohort of patients.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>36575500</pmid><doi>10.1186/s13023-022-02603-3</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0001-8280-5838</orcidid><oa>free_for_read</oa></addata></record>
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subjects Analysis
Care and treatment
Circulating miRs
Diagnosis
Duchenne muscular dystrophy
Epigenetic inheritance
Facioscapulohumeral muscular dystrophy
Genetic aspects
Humans
Limb girdle muscular dystrophies
Magnetic resonance imaging
Methods
MicroRNA
MicroRNAs - genetics
Molecular signature
Muscular Dystrophies, Limb-Girdle - genetics
Muscular dystrophy
Muscular Dystrophy, Facioscapulohumeral - genetics
title Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies
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