The nuclear background influences the penetrance of the near-homoplasmic m.1630 Aâ¯>â¯G MELAS variant in a symptomatic proband and asymptomatic mother.

Uittenbogaard, Martine; Wang, Hao; Zhang, Victor Wei; Wong, Lee-Jun; Brantner, Christine A; Gropman, Andrea; Chiaramello, Anne

The nuclear background influences the penetrance of the near-homoplasmic m.1630 Aâ¯>â¯G MELAS variant in a symptomatic proband and asymptomatic mother.

Uittenbogaard, Martine; Wang, Hao; Zhang, Victor Wei; Wong, Lee-Jun; Brantner, Christine A; Gropman, Andrea; Chiaramello, Anne.

Afiliación

Uittenbogaard M; Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Wang H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zhang VW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; AmCare Genomics Laboratory, GuangZhou 510300, China.
Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Brantner CA; GW Nanofabrication and Imaging Center, Office of the Vice President for Research, George Washington University, Washington, DC 20052, USA.
Gropman A; Children's National Medical Center, Division of Neurogenetics and Developmental Pediatrics, Washington, DC 20010, USA.
Chiaramello A; Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address: achiaram@gwu.edu.

Mol Genet Metab ; 126(4): 429-438, 2019 04.

Article en En | MEDLINE | ID: mdl-30709774

Asunto(s)

Fibroblastos/patología; Variación Genética; Síndrome MELAS/genética; Madres; Penetrancia; Enfermedades Asintomáticas; Metabolismo Energético; Femenino; Fibroblastos/metabolismo; Genoma Mitocondrial; Glucólisis; Antígenos HLA/genética; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Microscopía Electrónica de Transmisión; Persona de Mediana Edad; Mitocondrias/patología; Mitocondrias/ultraestructura; Mutación Puntual; Valina-ARNt Ligasa/genética; Adulto Joven

Palabras clave

Glycolysis; MELAS; Metabolic adaptability; Mitochondrial tRNA(Val); OXPHOS; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Síndrome MELAS / Penetrancia / Fibroblastos / Madres Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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