Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Anne-Frédérique Dessein,Monique Fontaine,Marie Joncquel-Chevalier Curt,Gilbert Briand, Claire Sechter,Karine Mention-Mulliez,Dries Dobbelaere,Claire Douillard,Arnaud Lacour,Isabelle Redonnet-Vernhet,Delphine Lamireau,Magalie Barth, Marie-Christine Minot-Myhié,Alice Kuster,Pascale de Lonlay,Niels Gregersen,Cécile Acquaviva,Christine Vianey-Saban,Joseph Vamecq

Clinica Chimica Acta（2017）

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摘要

•ACADS susceptibility variants (c.511C>T, c.625G>A) are considered to be non-pathogenic.•Fluxomic acylcarnitine profiling documents the site(s) for β-oxidation enzyme blockade.•It also detected symptomatic patients with ACADS susceptibility variants.•In these patients, SCAD contribution to mitochondrial palmitate oxidation was impaired.•This finding is consistent with known altered kinetics of encoded proteins.

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关键词

ACADS,Short-chain acyl-CoA dehydrogenase [SCAD],SCAD functional impairment,SCAD deficiency,ACADS susceptibility variants (c.511C>T and c.625G>A),ACADS pathogenic mutation,In situ fluxomic assessment of protein function

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