中国当代儿科杂志2012，Vol.14Issue(8)：561-566,6.
ND3基因10191T＞C突变导致的线粒体呼吸链复合物Ⅰ缺陷
Mitochondrial respiratory chain complex Ⅰ deficiency due to 10191T ＞ C mutation in ND3 gene
摘要
Abstract
This study reviews a case of mitochondrial respiratory chain complex I deficiency due to the 10I91T > C mutation in mitochondrial NDi gene. The previously healthy boy progressively presented with blepharoptosis, weakness, epilepsy and motor regression at age 6 years. Elevated blood lactate and pyruvate were observed. Brain magnetic resonance imaging showed symmetrical lesions in the basal ganglia. Leigh syndrome was thus confirmed. The protein from the mitochondria and genomic DNA of the boy and his parents was collected from peripheral blood leucocytes for the activity test for mitochondrial complex i to V and genetic analysis. The results showed the activity of complex I (33.1 nmol /min in 1 milligram mitochondrial protein) was lower than normal reference value (44. 0 ± 5. 4 nmol /min in 1 milligram mitochondrial protein). The ratio of complex I to citrate synthase ( 19. 8% ) was also lower than normal reference value (48% ±11% ). The activities of complexes Ⅱ to V were normal. 10191T > C mutation in NDi gene of mitochondria was identified in the boy. 10191T > C mutation and complex I deficiency were not detected in his parents. At present, he is 16 years old, and of normal intelligence with spastic paralysis in both lower extremities after treatment. It is concluded that a Chinese boy with isolated complex I deficiency due to 10191T > C mutation in NDi gene was firstly diagnosed by peripheral leukocytes mitochondrial respiratory chain enzyme assay and gene analysis. This study can provide clinical data for the nosogenesis of Leigh syndrome.关键词
Leigh综合征/ND3基因/线粒体呼吸链复合物Ⅰ缺陷/儿童Key words
Leigh syndrome/ NDi gene/ Mitochondrial respiratory chain complex 1 deficiency/ Child分类
医药卫生引用本文复制引用
刘玉鹏,张月华,肖江喜,杨艳玲,马艳艳,吴桐菲,王峤,孔庆鹏,魏晓琼,张尧,宋金青,常杏芝..ND3基因10191T＞C突变导致的线粒体呼吸链复合物Ⅰ缺陷[J].中国当代儿科杂志,2012,14(8):561-566,6.基金项目
国家十一五规划科技支撑计划重大项目(No.2006BAI05A07) （No.2006BAI05A07）
国家自然科学基金(No.30872794). （No.30872794）
