Increased oxidative metabolism in the Li-Fraumeni syndrome.
Increased oxidative metabolism in the Li-Fraumeni syndrome.
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DOI：
10.1056/nejmoa1214091
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发表时间：
2013-03-14
期刊：
影响因子：
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通讯作者：
Hwang PM
中科院分区：
文献类型：
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作者：
Wang PY;Ma W;Park JY;Celi FS;Arena R;Choi JW;Ali QA;Tripodi DJ;Zhuang J;Lago CU;Strong LC;Talagala SL;Balaban RS;Kang JG;Hwang PM
越来越多的证据表明，代谢的改变可能有助于肿瘤的发生。在这里，我们报道了携带TP53（编码肿瘤抑制蛋白p53的基因）种系突变的Li-Fraumeni综合征家族成员。与不携带这些突变的家庭成员和健康志愿者相比，携带这些突变的家庭成员骨骼肌氧化磷酸化增加。对Li-Fraumeni综合征患者的组织样本和该综合征的小鼠模型进行的基础实验研究支持了线粒体功能增加的体内发现。这些结果表明p53调节人类的生物能量稳态。（由国家心脏、肺和血液研究所和国家卫生研究院资助；ClinicalTrials.gov号码，NCT00406445。）
There is growing evidence that alterations in metabolism may contribute to tumorigenesis. Here, we report on members of families with the Li–Fraumeni syndrome who carry germline mutations in TP53, the gene encoding the tumor-suppressor protein p53. As compared with family members who are not carriers and with healthy volunteers, family members with these mutations have increased oxidative phosphorylation of skeletal muscle. Basic experimental studies of tissue samples from patients with the Li–Fraumeni syndrome and a mouse model of the syndrome support this in vivo finding of increased mitochondrial function. These results suggest that p53 regulates bioenergetic homeostasis in humans. (Funded by the National Heart, Lung, and Blood Institute and the National Institutes of Health; ClinicalTrials.gov number, NCT00406445.)