Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients

Sara Missaglia; Valentina Pegoraro; Roberta Marozzo; Daniela Tavian; Corrado Angelini

doi:10.4081/ejtm.2019.8880

Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients

Eur J Transl Myol. 2020 Apr 1;30(1):8880. doi: 10.4081/ejtm.2019.8880. eCollection 2020 Apr 7.

Authors

Sara Missaglia^{1

2}, Valentina Pegoraro³, Roberta Marozzo³, Daniela Tavian^{1

2}, Corrado Angelini³

Affiliations

¹ Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy.
² Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
³ IRCCS San Camillo Hospital, Venice, Italy.

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.

Keywords: ETFDH; Multiple acyl-CoA dehydrogenase deficiency; fatty acids oxidation disorder; myomiRs; myopathy.

Grants and funding

Funding: The publication of this article was supported by Università Cattolica del Sacro Cuore (Milan, Italy). This work was supported by PRIN Grant 2017A5TXC3 (Italy) and AFM grant 22392 (France).