Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10882986 | Mitochondrion | 2013 | 6 Pages |
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.
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Authors
Oscar Ortega-Recalde, Dora Janeth Fonseca, Liliana Catherine Patiño, Juan Jaime Atuesta, Carolina Rivera-Nieto, Carlos MartÃn Restrepo, Heidi Eliana Mateus, Marjo S. van der Knaap, Paul Laissue,