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Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare fatty acids oxidation disorder which is often associated with deficiency of electron transfer flavoprotein dehydrogenase (ETFDH). In this study we reported clinical features and evaluation of expression profile of circulating muscle-specific miRNAs (myomiRs) in two MADD patients carrying different ETFDH gene mutations. Patient 1 was a compound heterozygote for two missense mutations. She showed a late onset MADD clinical phenotype and a significant increase of serum myomiRs. Patient 2, carrying a missense and a frameshift mutation, displayed early onset symptoms and a slight increase of some serum myomiRs.
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Valentina Pegoraro, Corrado Angelini (2021)
Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies. Genes, 12(1), 85.10.3390/genes12010085
Sara Missaglia, Daniela Tavian, Corrado Angelini (2021)
ETF dehydrogenase advances in molecular genetics and impact on treatment. Critical Reviews in Biochemistry and Molecular Biology, 56(4), 360.10.1080/10409238.2021.1908952
Mohammad Reza Seyedtaghia, Reza Jafarzadeh‐Esfehani, Seyedmojtaba Hosseini, Sepehr Kobravi, Mahdis Hakkaki, Yalda Nilipour (2024)
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases. Molecular Genetics & Genomic Medicine, 12(7), 10.1002/mgg3.2489
André Truffert, Ruxandra Iancu Ferfoglia, Johannes Alexander Lobrinus, Kaveh Samii, André Kohler (2020)
Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability. European Journal of Translational Myology, 30(3), 10.4081/ejtm.2020.9225
Christopher Heier, Aiping Zhang, Nhu Nguyen, Christopher Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Pandey, Michela Guglieri, Monique Ryan, Paula Clemens, Mathula Thangarajh, Richard Webster, Edward Smith, Anne Connolly, Craig McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Jean Mah, Alyson Fiorillo, Yi-Wen Chen (2020)
Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy. Journal of Personalized Medicine, 10(4), 236.10.3390/jpm10040236
Corrado Angelini, Roberta Marozzo, Valentina Pegoraro, Sabrina Sacconi (2020)
Diagnostic challenges in metabolic myopathies. Expert Review of Neurotherapeutics, 20(12), 1287.10.1080/14737175.2020.1825943
Brandon M. Roberts, Sarah E. Deemer, Daniel L. Smith, James A. Mobley, Nicolas Musi, Eric P. Plaisance (2022)
Effects of an exogenous ketone ester using multi-omics in skeletal muscle of aging C57BL/6J male mice. Frontiers in Nutrition, 9, 10.3389/fnut.2022.1041026
Merritt JL 2nd, Norris M, Kanungo S. Fatty acid oxidation disorders. Ann Transl Med 2018;6:473.
DOI: https://doi.org/10.21037/atm.2018.10.57
Angelini C, Pennisi E, Missaglia S, et al. Metabolic lipid muscle disorders: biomarkers and treatment. Ther Adv Neurol Disord 2019;12:1756286419843359.
DOI: https://doi.org/10.1177/1756286419843359
Zhang J, Frerman FE, Kim JJ. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci U S A 2006;103:16212–16217.
DOI: https://doi.org/10.1073/pnas.0604567103
Grunert SC. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme a dehydrogenase deficiency. Orphanet J Rare Dis 2014;9:117.
DOI: https://doi.org/10.1186/s13023-014-0117-5
Bhaskaran M, Mohan M. MicroRNAs: History, Biogenesis, and Their Evolving Role in Animal Development and Disease. Vet Pathol 2014;5:759-774.
DOI: https://doi.org/10.1177/0300985813502820
Siracusa J, Koulmann N, Banzet S. Circulating myomiRs: a new class of biomarkers to monitor skeletal muscle in physiology and medicine. J Cachexia Sarcopenia Muscle 2018;9:20‐27.
DOI: https://doi.org/10.1002/jcsm.12227
Vickers KC, Palmisano BT, Shoucri BM, et al. MicroRNAs are transported in plasma and delivered to recipient cells by high-density lipoprotein. Nat Cell Biol 2011;13:423-433.
DOI: https://doi.org/10.1038/ncb2210
Horak M, Novak J, Bienertova-Vasku J. Muscle-specific microRNAs in skeletal muscle development. Dev Biol 2016;410:1–13.
DOI: https://doi.org/10.1016/j.ydbio.2015.12.013
Mitchelson KR, Qin WY. Roles of the canonical myomiRs miR-1, -133 and -206 in cell development and disease. World J Biol Chem 2015;6:162–208.
DOI: https://doi.org/10.4331/wjbc.v6.i3.162
Cacchiarelli D, Legnini I, Martone J, et al. miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol Med 2011;3:258‐265.
DOI: https://doi.org/10.1002/emmm.201100133
Pegoraro V, Missaglia S, Marozzo R, et al. MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy. Muscle Nerve 2020;61:253-257.
DOI: https://doi.org/10.1002/mus.26761
Angelini C, Tavian D, Missaglia S. Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. JIMD Rep. 2018;38:33-40.
DOI: https://doi.org/10.1007/8904_2017_27
Missaglia S, Tavian D, Moro L, et al. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Lipids Health Dis 2018;17:254.
DOI: https://doi.org/10.1186/s12944-018-0903-5
Townley-Tilson WHD, Callis TE, Wang D. MicroRNAs 1, 133, and 206: Critical factors of skeletal and cardiac muscle development, function, and disease. Int J Biochem Cell Biol 2010;42:1252–1255
DOI: https://doi.org/10.1016/j.biocel.2009.03.002
How to Cite
Missaglia, S., Pegoraro, V., Marozzo, R., Tavian, D., & Angelini, C. (2020). Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients. European Journal of Translational Myology, 30(1), 116–120. https://doi.org/10.4081/ejtm.2019.8880
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