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

作者：Ortega Recalde Oscar; Janeth Fonseca Dora; Catherine Patino Liliana; Jaime Atuesta Juan; Rivera Nieto Carolina; Martin Restrepo Carlos; Eliana Mateus Heidi; van der Knaap Marjo S; Laissue Paul^*

来源：Mitochondrion, 2013, 13(6): 749-754.

DOI：10.1016/j.mito.2013.03.010

• Mitochondrial disease
• Diffuse leukodystrophy
• NDUFV1 mutations
• Genetics

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%26gt;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.

• 出版日期2013-11