1. Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
- Author
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Sara Missaglia, Corrado Angelini, Roberta Marozzo, Valentina Pegoraro, and Daniela Tavian
- Subjects
0301 basic medicine ,medicine.medical_specialty ,lcsh:Medicine ,ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE ,Late onset ,Compound heterozygosity ,Article ,lcsh:QM1-695 ,Frameshift mutation ,03 medical and health sciences ,0302 clinical medicine ,Multiple acyl-CoA dehydrogenase deficiency ,fatty acids oxidation disorder ,Internal medicine ,microRNA ,medicine ,Missense mutation ,Orthopedics and Sports Medicine ,Multiple Acyl-CoA Dehydrogenase Deficiency ,Myopathy ,Settore BIO/10 - BIOCHIMICA ,Molecular Biology ,business.industry ,lcsh:R ,lcsh:Human anatomy ,Cell Biology ,030104 developmental biology ,Endocrinology ,ETFDH ,myomiRs ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery ,myopathy - Abstract
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.
- Published
- 2020