A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.
Biochem Biophys Res Commun
; 407(4): 747-52, 2011 Apr 22.
Article
em En
| MEDLINE
| ID: mdl-21447323
ABSTRACT
Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome is a mitochondrial disorder characterized by a wide variety of clinical presentations and a multisystemic organ involvement. In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and deletions. Screening of the entire mtDNA genome showed several known mitochondrial variants besides to a novel transition m.1640A>G affecting a wobble adenine in the anticodon stem region of the tRNA(Val). This nucleotide was conserved and it was absent in 150 controls suggesting its pathogenicity. In addition, no mutations were found in the nuclear polymerase gamma-1 gene (POLG1). These results suggest further investigation nuclear genes encoding proteins responsible for stability and structural components of the mtDNA or to the oxidative phosphorylation machinery to explain the phenotypic variability in the studied family.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
RNA
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RNA de Transferência de Valina
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Síndrome MELAS
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Genoma Mitocondrial
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article