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

O. Ortega-Recalde, D.J. Fonseca, L.C. Patino, J.J. Atuesta, C. Rivera-Nieto, C.M. Restrepo, H.E. Mateus, M.S. van der Knaap, P. Laissue

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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.
Original languageEnglish
Pages (from-to)749-754
JournalMitochondrion
Volume13
Issue number6
DOIs
Publication statusPublished - 2013

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