Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy

[Background]: Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mitochondr...

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Detalles Bibliográficos
Autores: Maffezzini, Camilla, Laine, Isabelle, Dallabona, Cristina, Clemente, Paula, Calvo-Garrido, Javier, Wibom, Rolf, Naess, Karin, Barbaro, Michela, Falk, Anna, Donnini, Claudia, Freyer, Christoph, Wredenberg, Anna, Wedell, Anna
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/378709
Acceso en línea:http://hdl.handle.net/10261/378709
Access Level:acceso abierto
Palabra clave:Aminoacylation
Mitochondria
Mitochondrial tryptophanyl‐tRNA synthetase
WARS2
Descripción
Sumario:[Background]: Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mitochondrial tryptophanyl-tRNA synthetase (WARS2) gene, presenting with severe neurological symptoms but normal mitochondrial function in skeletal muscle biopsies and cultured skin fibroblasts.

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