Mitochondrial DNA Mutations in Leigh Disease in Japan
| Jazyk: | japonština |
|---|---|
| Rok vydání: | 1998 |
| Předmět: | |
| Zdroj: | 千葉医学雑誌 = Chiba medical journal. 74(2):83-87 |
| ISSN: | 0303-5476 |
| Popis: | Leigh脳症80例について, ミトコンドリアDNA変異を検討した。11例はこれまでにも報告の多い8993番での変異を有した。それに加えて, 3例でわが国ではまだ報告のない9176番でのT→C変異を認めた。この9176変異はこれまでに米国から家族性両側線状体壊死症の1兄弟例ならびにスペインからLeigh脳症1例の報告があるのみである。今回3例で本変異が検出されたことより, 8993変異と同様にLeigh脳症の一因として位置づけることができると考えられた。 Among 80 patients with the clinical characteristics of Leigh's syndrome, 11 patients had a well-known mutation at nucleotide position (nt) 8993 in mitochondrial DNA. In addition, three patients had a T-to-C mutation at nt 9176 which had been described previously in only two brothers with bilateral striatal necrosis and one patient with Leigh's syndrome. In our three patients, one had the typical clinical characteristics of Leigh syndrome from early infancy, and two later onset of neurological deficits. All had slowly progressive course and abnormal neuroimaging in the basal ganglia. Because nt 8993 and 9176 are located in the ATPase 6 coding region, altered ATPase function may be one of enzyme abnormalities for Leigh's syndrome and the similar condition of bilateral striatal necrosis. |
| Databáze: | OpenAIRE |
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