NDLI: NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Content Provider	PubMed Central
Author	Kirby, Denise M. Salemi, Renato Canny, Sugiana Ohtake, Akira Parry, Lee Bell, Katrina M. Kirk, Edwin P. Boneh, Avihu Taylor, Robert W. Dahl, Hans-henrik M. Ryan, Michael T. Thorburn, David R.
Copyright Year	2004
Abstract	Complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I–deficient patients. We investigated whether there may be an unknown common gene by performing functional complementation analysis of cell lines from 10 unrelated patients. Two of the patients were found to have mitochondrial DNA mutations. The other 8 represented 7 different (nuclear) complementation groups, all but 1 of which showed abnormalities of complex I assembly. It is thus unlikely that any one unknown gene accounts for a large proportion of complex I cases. The 2 patients sharing a nuclear complementation group had a similar abnormal complex I assembly profile and were studied further by homozygosity mapping, chromosome transfers, and microarray expression analysis. NDUFS6, a complex I subunit gene not previously associated with complex I deficiency, was grossly underexpressed in the 2 patient cell lines. Both patients had homozygous mutations in this gene, one causing a splicing abnormality and the other a large deletion. This integrated approach to gene identification offers promise for identifying other unknown causes of respiratory chain disorders.
Related Links	http://dx.doi.org/10.1172/jci20683
Ending Page	845
Page Count	9
Starting Page	837
File Format	PDF
ISSN	00219738
Journal	Journal of Clinical Investigation
Issue Number	6
Volume Number	114
Language	English
Publisher	American Society for Clinical Investigation
Publisher Date	2004-09-15
Access Restriction	Open
Rights Holder	American Society for Clinical Investigation
Subject Keyword	Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Medicine

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