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

Oscar Ortega-Recalde, Dora Janeth Fonseca, Liliana Catherine Patiño, Juan Jaime Atuesta, Carolina Rivera-Nieto, Carlos Martín Restrepo, Heidi Eliana Mateus, Marjo S. van der Knaap, Paul Laissue

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9 Citas (Scopus)

Resumen

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.
Idioma originalInglés estadounidense
Páginas (desde-hasta)749-754
Número de páginas6
PublicaciónMitochondrion
DOI
EstadoPublicada - nov 1 2013

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Citar esto

Ortega-Recalde, O., Fonseca, D. J., Patiño, L. C., Atuesta, J. J., Rivera-Nieto, C., Restrepo, C. M., Mateus, H. E., van der Knaap, M. S., & Laissue, P. (2013). A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Mitochondrion, 749-754. https://doi.org/10.1016/j.mito.2013.03.010