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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

Authors: Zhu, Z  Yao, J  Johns, T  Fu, K  De Bie, I  Macmillan, C  Cuthbert, AP  Newbold, RF  Wang, J  Chevrette, M  Brown, GK  Brown, RM  Shoubridge, EA 
Citation: Zhu Z, etal., Nat Genet. 1998 Dec;20(4):337-43.
Pubmed: (View Article at PubMed) PMID:9843204
DOI: Full-text: DOI:10.1038/3804

Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. COX deficiency is an autosomal recessive trait and most patients belong to a single genetic complementation group. DNA sequence analysis of the genes encoding the structural subunits of the COX complex has failed to identify a pathogenic mutation. Using microcell-mediated chromosome transfer, we mapped the gene defect in this disorder to chromosome 9q34 by complementation of the respiratory chain deficiency in patient fibroblasts. Analysis of a candidate gene (SURF1) of unknown function revealed several mutations, all of which predict a truncated protein. These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease.


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CRRD Object Information
CRRD ID: 1599193
Created: 2007-01-19
Species: All species
Last Modified: 2007-01-19
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.