Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Biochim Biophys Acta
; 1787(5): 491-501, 2009 May.
Article
em En
| MEDLINE
| ID: mdl-18977334
ABSTRACT
MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial neuromuscular syndromes. We identified a total of 33 subjects with novel, private or uncommon mutations. Among these, five novel mutations were found in both paediatric and adult cases. We here report on the clinical description of these patients, as well as the biochemical and molecular genetic characterization of the corresponding mutations. Patients 1 and 2 showed changes in ND genes, patient 3 carried a heteroplasmic deletion in the COI gene, patients 4 and 5 carried heteroplasmic mutations in tRNA(Trp) and tRNA(Phe), respectively. Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Encefalomiopatias Mitocondriais
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child
/
Humans
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article