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A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalonic Aciduria

2014-03-20Journal article Restricted access
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dc.contributor.authorNogueira, Célia
dc.contributor.authorMeschini, M.C.
dc.contributor.authorNesti, C.
dc.contributor.authorGarcia, P.
dc.contributor.authorDiogo, L.
dc.contributor.authorValongo, C.
dc.contributor.authorCosta, R.
dc.contributor.authorVideira, A.
dc.contributor.authorVilarinho, L.
dc.contributor.authorSantorelli, F.M.
dc.date.accessioned2015-02-09T15:15:45Z
dc.date.available2015-02-09T15:15:45Z
dc.date.issued2014-03-20
dc.description.abstractSuccinyl-coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl-coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of α and β subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism. Metabolic investigations disclosed hyperlactacidemia, moderate urinary excretion of methylmalonic acid, and elevated levels of C4-dicarboxylic carnitine in blood. We identified a novel homozygous p.M329V in SUCLA2. In cultured cells, the p.M329V resulted in a reduced amount of the SUCLA2 protein, impaired production of mitochondrial ATP, and enhanced production of reactive oxygen species, which was partially reduced by using 5-aminoimidazole-4-carboxamide ribonucleotide in the culture medium. Expanding the array of SUCLA2 mutations, we suggested that reactive oxygen species scavengers are likely to impact on disease prognosis.por
dc.description.sponsorshipThis work was partially supported by the National Institute of Health, INSA, (to LV). CeN’s work was performed as part of her PhD thesis under the rules of the Portuguese Foundation for Science and Technology (SFRH/BD/ 45247/2008). The Transnational Cooperation between FCT/CAPES 2013/2014 partially supported, as well, the work of both researchers (Project 6818).por
dc.identifier.citationJ Child Neurol. 2015 Feb;30(2):228-32. doi: 10.1177/0883073814527158. Epub 2014 Mar 20por
dc.identifier.urihttp://hdl.handle.net/10400.18/2818
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSAGE Publicationspor
dc.relation.publisherversionhttp://jcn.sagepub.com/content/30/2/228.longpor
dc.subjectSUCLA2por
dc.subjectEncephalomyopathypor
dc.subjectMethylmalonic Aciduriapor
dc.subjectMitochondrial DNA Depletionpor
dc.subjectSuccinate-coenzyme A Ligasepor
dc.subjectDoenças Genéticaspor
dc.titleA Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalonic Aciduriapor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage232por
oaire.citation.startPage228por
oaire.citation.titleJournal of Child Neurologypor
oaire.citation.volume30(2)por
rcaap.rightsembargoedAccesspor
rcaap.typearticlepor

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