New Splicing-site Mutations in the SURF1 Gene in Leigh Syndrome Patients

Marie O. Péquignot, Isabelle Desguerre, Runu Dey, Marzia Tartari, Massimo Zeviani, Alessandro Agostino, Chantal Benelli, Françoise Fouque, Carina Prip-Buus, Dominique Marchant, Marc Abitbol, Cécile Marsac

Research output: Contribution to journalArticlepeer-review


The gene SURF1 encodes a factor involved in the biogenesis of cytochrome c oxidase, the last complex in the respiratory chain. Mutations of the SURF1 gene result in Leigh syndrome and severe cytochrome c oxidase deficiency. Analysis of seven unrelated patients with cytochrome c oxidase deficiency and typical Leigh syndrome revealed different SURF1 mutations in four of them. Only these four cases had associated demyelinating neuropathy. Three mutations were novel splicing-site mutations that lead to the excision of exon 6. Two different novel heterozygous mutations were found at the same guanine residue at the donor splice site of intron 6; one was a deletion, whereas the other was a transition [588+1G>A]. The third novel splicing-site mutation was a homozygous [516-2_516-1delAG] in intron 5. One patient only had a homozygous polymorphism in the middle of the intron 8 [835+25C>T]. Western blot analysis showed that Surfl protein was absent in all four patients harboring mutations. Our studies confirm that the SURF1 gene is an important nuclear gene involved in the cytochrome c oxidase deficiency. We also show that Surfl protein is not implicated in the assembly of other respiratory chain complexes or the pyruvate dehydrogenase complex.

Original languageEnglish
Pages (from-to)15326-15329
Number of pages4
JournalJournal of Biological Chemistry
Issue number18
Publication statusPublished - May 4 2001

ASJC Scopus subject areas

  • Biochemistry


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