A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

• Fecha de publicación: 2013
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/22599
• Acceso en línea: https://doi.org/10.1016/j.mito.2013.03.010; https://repository.urosario.edu.co/handle/10336/22599
• Palabra clave: Flavoprotein; Messenger rna; Reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone); Reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone) flavoprotein 1; Unclassified drug; Article; Bioinformatics; Blood analysis; Cerebrospinal fluid analysis; Child; Clinical article; Clinical feature; Diffuse leukodystrophy; Disorders of mitochondrial functions; Female; Gene deletion; Heterozygosity; Human; Human tissue; Leukodystrophy; Male; Missense mutation; Nuclear magnetic resonance imaging; Nucleotide sequence; Preschool child; Priority journal; Rna synthesis; Skin biopsy; Stop codon; Ci; Complex i; Diffuse leukodystrophy; Genetics; Md; Mitochondrial disease; Mitochondrial respiratory chain disorders; Ndufv1 mutations; Nmd; Nonsense-mediated decay; Amino acid sequence; Energy metabolism; Heterozygote; Humans; Magnetic resonance imaging; Male; Mitochondrial diseases; Molecular sequence data; Nadh dehydrogenase; Diffuse leukodystrophy; Genetics; Mitochondrial disease; Ndufv1 mutations; missense; preschool; Child; Mutation
• License: Abierto (Texto Completo)