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Title: Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency
Authors: Hoefs, Saskia J G
Dieteren, Cindy E J
Rodenburg, Richard J
Naess, Karin
Bruhn, Helene
Wibom, Rolf
Wagena, Esther
Willems, Peter H
Smeitink, Jan A M
Nijtmans, Leo G
van den Heuvel, Lambertus # ×
Issue Date: Jul-2009
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:30 issue:7 pages:E728-36
Abstract: Mitochondrial complex I deficiency is the most common defect of the OXPHOS system. We report a patient from consanguineous parents with a complex I deficiency expressed in skin fibroblasts. Homozygosity mapping revealed several homozygous regions with candidate genes, including the gene encoding an assembly factor for complex I, NDUFAF2. Screening of this gene on genomic DNA revealed a homozygous stop-codon resulting in a truncation of the protein at position 38. The mutation causes a severely reduced activity and a disturbed assembly of complex I. A baculovirus containing the GFP-tagged wild-type NDUFAF2 gene was used to prove the functional consequences of the mutation. The expression and activity of complex I was almost completely rescued by complementation of the patient fibroblasts with the baculovirus. Therefore, the homozygous substitution in NDUFAF2 is the disease-causing mutation, which results in a complex I deficiency in the fibroblasts of the patient.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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