ND3基因10191T>C突变导致的线粒体呼吸链复合物Ⅰ缺陷

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Abstract This study reviews a case of mitochondrial respiratory chain complex I deficiency due to the 10191T>C mutation in mitochondrial ND3 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 Ⅱto Ⅴwere normal. 10191T>C mutation in ND3 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 ND3 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.

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	Articles by authors
	LIU Yu-Peng
	MA Yan-Yan
	WU Tong-Fei
	WANG Qiao
	KONG Qing-Peng
	WEI Xiao-Qiong
	ZHANG Yao
	SONG Jin-Qing
	CHANG Xing-Zhi
	ZHANG Yue-Hua
	XIAO Jiang-Xi
	YANG Yan-Ling

Key words： Leigh syndrome ND3 gene Mitochondrial respiratory chain complex I deficiency Child

PACS:

R596.2

Cite this article:

LIU Yu-Peng,MA Yan-Yan,WU Tong-Fei et al. Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene[J]. 中国当代儿科杂志, 2012, 14(08): 561-566.

LIU Yu-Peng,MA Yan-Yan,WU Tong-Fei et al. Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene[J]. CJCP, 2012, 14(08): 561-566.

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http://www.zgddek.com/EN/ OR http://www.zgddek.com/EN/Y2012/V14/I08/561

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