Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A>G mutation.
To study the clinical, biochemical, and genetic heterogeneity of six Chinese patients and their mothers with the 3243 A>G mutation, six patients (ranging from 5 to 11 years) were hospitalized. All the mothers were healthy. Mitochondrial respiratory chain enzyme activities were determined by spectrophotometry. Mitochondrial gene was analyzed in all patients. Six core pedigrees were investigated. Two patients had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome and one had Leigh syndrome. The common initial symptoms were headache, vomiting, blurred vision, and epilepsy. m.3243A>G mutation was detected in all patients and their mothers. The mutation loads ranged from 43.6% to 58% and those of their mothers ranged from 14.1% to 28.6%. Varied respiratory chain deficiencies were observed in all patients and two mothers. m.3243A>G mutation can result in a wide spectrum of respiratory chain complex deficiencies. Mitochondrial DNA mutation detected in blood may be likely to transmit to offspring, and the mutation load may increase.
Department of Pediatrics, Chinese Liberation Army General Hospital, Beijing, PR China.
Yan-Yan
YY
Ma
Tong-Fei
TF
Wu
Yu-Peng
YP
Liu
Qiao
Q
Wang
Xi-Yuan
XY
Li
Jin-Qing
JQ
Song
Xiu-Yu
XY
Shi
Wei-Na
WN
Zhang
Meng
M
Zhao
Ling-Yan
LY
Hu
Yan-Ling
YL
Yang
Li-Ping
LP
Zou
D002648:Child; D002675:Child, Preschool; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics; D009154:Mutation
D004272:DNA, Mitochondrial