The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.
Mitochondrion
; 55: 8-13, 2020 11.
Article
em En
| MEDLINE
| ID: mdl-32931937
ABSTRACT
Diagnosing complex V deficiencies caused by new variants in mitochondrial DNA is challenging due to the rarity, phenotypic diversity, and limited functional assessments. We describe a child with the m.9032T > C variant in MT-ATP6 encoding p.(Leu169Pro), with primary presentation of microcephaly, ataxia, hearing loss, and lactic acidosis. Functional studies reveal abnormal fragment F1 of complex V on blue native gel electrophoresis. Respirometry showed excessively tight coupling through complex V depressing oxygen consumption upon ADP stimulation and an excessive increase following uncoupling, in the presence of upregulation of mitochondrial biogenesis. These data add evidence about pathogenicity and functional impact of this variant.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência de DNA
/
Polimorfismo de Nucleotídeo Único
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Doenças Mitocondriais
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ATPases Mitocondriais Próton-Translocadoras
Tipo de estudo:
Etiology_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article