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

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

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 (US)
Pages (from-to)749-754
Number of pages6
JournalMitochondrion
DOIs
StatePublished - Nov 1 2013

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