Association between the T6459C point mutation of the mitochondrial MT-CO1 gene and susceptibility to sepsis among Chinese Han people.
Association between the T6459C point mutation of the mitochondrial MT-CO1 gene and susceptibility to sepsis among Chinese Han people.
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DOI：
10.1111/jcmm.13746
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发表时间：
2018-11
影响因子：
5.3
通讯作者：
Zhu H
中科院分区：
文献类型：
--
作者：
Shen X;Han G;Li S;Song Y;Shen H;Zhai Y;Wang Y;Zhang F;Dong N;Li T;Yao Y;Zhu H
To search for an association between sepsis and mitochondrial genetic basis, we began our study. In this study, a proband harbouring mitochondrial T6459C mutation with sepsis and his Chinese Han pedigree including 7 members of 3 generations were enrolled. General information, blood parameters and mitochondrial full sequence scanning of all members were performed, and cellular functions, including cellular reactive oxygen species (ROS) levels, mitochondrial membrane potential (MMP), degrees of cell apoptosis and adenosine triphosphate (ATP) concentrations, were measured in members with and without the T6459C mutation. Through mitochondrial full sequence scanning and analysis of all members we found, the maternal members (I‐1, II‐1, II‐2 and II‐4) in this Chinese Han pedigree all had the mitochondrial T6459C mutation and were used as the mutation group. The non‐maternal members (II‐3, III‐1 and III‐2) did not have this mutation and were used as the non‐mutation group. The differences in all indicators, including the blood routine, blood biochemistry and coagulation function tests, between members in these two groups were not significant. Under the non‐stimulation condition, the mutation group had higher ROS levels (4210.42 ± 1043.35 vs 3387.78 ± 489.66, P = .028) and apoptosis ratios (P = .004) and lower ATP concentrations (P = .049) and MMP levels (P = .047) than the non‐mutation group. After 6 hours of simulated LPS stimulation, the mutation group had significantly increased ROS levels (5759.25 ± 2297.90 vs 3862.00 ± 1519.77, P = .045) compared with the non‐mutation group, whereas the mutation group continued to demonstrate higher ROS levels (P = .045) and apoptosis ratios (P = .003) and lower MMP levels (P = .005) and ATP concentrations (P = .010). We speculated that the mtDNA T6459C mutation might be the basis for the genetic susceptibility to sepsis.
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影响因子：
168.9
作者：
Schapira, Anthony H. V.
通讯作者：
Schapira, Anthony H. V.
影响因子：
8.8
作者：
Levy, MM;Fink, MP;Ramsay, G
通讯作者：
Ramsay, G
影响因子：
4.3
作者：
Ruggieri AJ;Levy RJ;Deutschman CS
通讯作者：
Deutschman CS
DOI：
10.1084/jem.20102049
发表时间：
2011-03-14
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Bulua AC;Simon A;Maddipati R;Pelletier M;Park H;Kim KY;Sack MN;Kastner DL;Siegel RM
通讯作者：
Siegel RM
DOI：
10.1038/nrc3803
发表时间：
2014-11
期刊：
Nature reviews. Cancer
影响因子：
--
作者：
Sabharwal SS;Schumacker PT
通讯作者：
Schumacker PT