Missaglia Sara, Pegoraro Valentina, Marozzo Roberta, Tavian Daniela, Angelini Corrado
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy.
Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
Eur J Transl Myol. 2020 Apr 1;30(1):8880. doi: 10.4081/ejtm.2019.8880. eCollection 2020 Apr 7.
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.
多种酰基辅酶A脱氢酶缺乏症（MADD）是一种罕见的脂肪酸氧化障碍疾病，常与电子传递黄素蛋白脱氢酶（ETFDH）缺乏有关。在本研究中，我们报告了两名携带不同ETFDH基因突变的MADD患者的临床特征以及循环肌肉特异性微小RNA（肌微小RNA）表达谱的评估情况。患者1是两个错义突变的复合杂合子。她表现出迟发性MADD临床表型，血清肌微小RNA显著增加。患者2携带一个错义突变和一个移码突变，表现出早发性症状，一些血清肌微小RNA略有增加。
