A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
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- 作者：Oscar Ortega-Recalde ; Dora Janeth Fonseca ; Liliana Catherine Pati帽o ; Juan Jaime Atuesta ; Carolina Rivera-Nieto ; Carlos Mart铆n Restrepo ; Heidi Eliana Mateus ; Marjo S. van der Knaap ; Paul Laissue
- 关键词：MD ; mitochondrial respiratory chain disorders ; CI ; complex I ; NMD ; nonsense-mediated decay
- 刊名：Mitochondrion
- 出版年：November, 2013
- 年：2013
- 卷：13
- 期：6
- 页码：749-754
- 全文大小：767 K
文摘
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.