Details

Autor(en) / Beteiligte

• Shoubridge, Eric A
• Zhu, Zhiqing
• Yao, Jianbo
• Johns, Timothy
• Fu, Katherine
• Bie, Isabelle De
• Macmillan, Carol
• Cuthbert, Andrew P
• Newbold, Robert F
• Wang, Jia-chi
• Chevrette, Mario
• Brown, Garry K
• Brown, Ruth M

Titel

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

Ist Teil von

• Nature genetics, 1998-12, Vol.20 (4), p.337-343

Ort / Verlag

London: Nature Publishing Group

Erscheinungsjahr

1998

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.