Document Detail

Three novel SURF-1 mutations in Japanese patients with Leigh syndrome.
MedLine Citation:
PMID:  11955926     Owner:  NLM     Status:  MEDLINE    
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.
Yukiko Ogawa; Etsuo Naito; Michinori Ito; Ichiro Yokota; Takahiko Saijo; Kumi Shinahara; Yasuhiro Kuroda
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  26     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2002 Mar 
Date Detail:
Created Date:  2002-04-16     Completed Date:  2002-06-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  196-200     Citation Subset:  IM    
Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima, Japan
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MeSH Terms
Amino Acid Sequence / genetics
Asian Continental Ancestry Group / genetics*
Base Sequence / genetics
Exons / genetics
Leigh Disease / genetics*
Membrane Proteins
Mitochondrial Proteins
Mutation / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic / genetics
Polymorphism, Restriction Fragment Length
Proteins / genetics*
Reg. No./Substance:
0/Membrane Proteins; 0/Mitochondrial Proteins; 0/Proteins; 0/Surf-1 protein

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