| First Author | Zhu Z | Year | 1998 |
| Journal | Nat Genet | Volume | 20 |
| Issue | 4 | Pages | 337-43 |
| PubMed ID | 9843204 | Mgi Jnum | J:51230 |
| Mgi Id | MGI:1314914 | Doi | 10.1038/3804 |
| Citation | Zhu Z, et al. (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome [see comments]. Nat Genet 20(4):337-43 |
| abstractText | 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. |
