Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.
The mitochondrial DNA (mtDNA) G13513A mutation in the ND5 subunit gene has been recently reported as a common cause of some phenotypes of mitochondrial myopathy. Until now, the prevalence and characteristics of this mutation in Leigh syndrome (LS) has not been determined. We screened 84 patients with Leigh syndrome (LS) and found the mutation in six (7%) of them. The proportions of mutant mtDNA in muscles were relatively low (42-70%). The onset of symptoms for patients with this mutation was from 9 months to 5 years. It should be noted that five patients had cardiac conduction abnormalities, particularly Wolff-Parkinson-White (WPW) syndrome (three patients). This study suggests that G13513A mutation is a frequent cause of LS and that patients with this mutation may have a characteristic clinical course.
Sudo
Akira
A
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan.|Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan.
Honzawa
Shiho
S
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan.|Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, Saitama, Japan.
Nonaka
Ikuya
I
Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan.
Goto
Yu-Ichi
YI
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan. goto@ncnp.go.jp.
D001824:Body Constitution; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007564:Japan; D007888:Leigh Disease / Q000150:complications / Q000235:genetics*; D008297:Male; D024101:Mitochondrial Proteins; D017354:Point Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I