title: Three novel SURF-1 mutations in Japanese patients with Leigh syndrome.
abstract: Leigh syndrome, a severe neurodegenerative disorder, commonly is associated with cytochrome c oxidase deficiency. Recent studies in white patients indicate that SURF-1 gene mutations can cause Leigh syndrome associated with cytochrome c oxidase deficiency. When we measured cytochrome c oxidase activity in cultured lymphoblastoid cells from our Japanese patients with typical Leigh syndrome, three patients demonstrated cytochrome c oxidase deficiency. Three novel mutations of the SURF-1 gene were identified in two of these three patients with cytochrome c oxidase deficiency. All mutations predicted loss of function of the SURF-1 protein; in both patients' cells, cytochrome c oxidase activity was decreased to less than 20% of the control mean. These results indicate that cultured lymphoblastoid cells are useful for elucidating the etiology of Leigh syndrome, and that loss of function of the SURF-1 gene product can be responsible for Leigh syndrome associated with severe cytochrome c oxidase deficiency in Japanese patients.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima, Japan
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Ogawa
authors.forename: Etsuo
authors.initials: E
authors.lastname: Naito
authors.forename: Michinori
authors.initials: M
authors.lastname: Ito
authors.forename: Ichiro
authors.initials: I
authors.lastname: Yokota
authors.forename: Takahiko
authors.initials: T
authors.lastname: Saijo
authors.forename: Kumi
authors.initials: K
authors.lastname: Shinahara
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007564:Japan; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein