A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.
Mitochondrion
; 47: 10-17, 2019 07.
Article
em En
| MEDLINE
| ID: mdl-31009750
ABSTRACT
We present a 14-year-old girl with loss of motor functions, tetraplegia, epilepsy and nystagmus, caused by a novel heteroplasmic m.641A>T transition in an evolutionary conserved region of mitochondrial genome, affecting the aminoacyl stem of mitochondrial tRNA-Phe. In silico prediction, respirometry, Western blot and enzymatic analyses in skin fibroblasts support the pathogenicity of the m.641A>T substitution. This is the 18th MT-TF point mutation associated with a mitochondrial disorder. The onset and the severity of the disease, however, is unique in this case and broadens the clinical picture related to mutations of mitochondrial tRNA-Phe.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
RNA de Transferência de Fenilalanina
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Mutação Puntual
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Epilepsia
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Genes Mitocondriais
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RNA Mitocondrial
/
Doenças Genéticas Inatas
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article