Ítem
Solo Metadatos
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
Título de la revista
Autores
Ortega-Recalde, Oscar
Fonseca Mendoza, Dora Janeth
Patiño, Liliana Catherine
Atuesta, Juan Jaime
Rivera-Nieto, Carolina
Restrepo Fernández, Carlos Martín
Mateus, Heidi Eliana
van der Knaap, Marjo S.
Laissue, Paul
Resumen
Abstract
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.
Palabras clave
Keywords
Flavoprotein , missense , 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 , Child , Energy metabolism , Heterozygote , Humans , Magnetic resonance imaging , Male , Mitochondrial diseases , Molecular sequence data , Mutation , Nadh dehydrogenase , Diffuse leukodystrophy , Genetics , Mitochondrial disease , Ndufv1 mutations
