Mitochondrial respiratory chain complex I deficiency due to 10191T&gt;C mutation in ND3 gene

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

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Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (08) : 561-566.

COMPLICATED CASE STUDY

Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene

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

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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.

Key words

Leigh syndrome / ND3 gene / Mitochondrial respiratory chain complex I deficiency / Child

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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. Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(08): 561-566

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