Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2818
Título: A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalonic Aciduria
Autor: Nogueira, Célia
Meschini, M.C.
Nesti, C.
Garcia, P.
Diogo, L.
Valongo, C.
Costa, R.
Videira, A.
Vilarinho, L.
Santorelli, F.M.
Palavras-chave: SUCLA2
Encephalomyopathy
Methylmalonic Aciduria
Mitochondrial DNA Depletion
Succinate-coenzyme A Ligase
Doenças Genéticas
Data: 20-Mar-2014
Editora: SAGE Publications
Citação: J Child Neurol. 2015 Feb;30(2):228-32. doi: 10.1177/0883073814527158. Epub 2014 Mar 20
Resumo: Succinyl-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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2818
Versão do Editor: http://jcn.sagepub.com/content/30/2/228.long
Aparece nas colecções:DGH - Artigos em revistas internacionais

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