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

Authors

Sara Missaglia
sara.missaglia@unicatt.it
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
Valentina Pegoraro
IRCCS San Camillo Hospital, Venice, Italy.
Roberta Marozzo
IRCCS San Camillo Hospital, Venice, Italy.
Daniela Tavian
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
Corrado Angelini
IRCCS San Camillo Hospital, Venice, Italy.

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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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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