期刊
HUMAN MOLECULAR GENETICS
卷 27, 期 1, 页码 95-106出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddx387
关键词
-
资金
- FRAXA Research Foundation
- United States Department of Defense Autism Grant [AR1101189]
- National Institutes of Health [MH108592, NS021328, CA182384]
- United Mitochondrial Disease Foundation Research Grant [FP00020605]
- Genetics Training Grant at the University of Pennsylvania [T32GM008216]
- McMorris Autism Early Intervention Initiative Fund
- Penn Orphan Disease Center
Fragile X Syndrome (FXS), the most prevalent form of inherited intellectual disability and the foremost monogenetic cause of autism, is caused by loss of expression of the FMR1 gene. Here, we show that dfmr1 modulates the global metabolome in Drosophila. Despite our previous discovery of increased brain insulin signaling, our results indicate that dfmr1 mutants have reduced carbohydrate and lipid stores and are hypersensitive to starvation stress. The observed metabolic deficits cannot be explained by feeding behavior, as we report that dfmr1 mutants are hyperphagic. Rather, our data identify dfmr1 as a regulator of mitochondrial function. We demonstrate that under supersaturating conditions, dfmr1 mutant mitochondria have significantly increased maximum electron transport system (ETS) capacity. Moreover, electron micrographs of indirect flight muscle reveal striking morphological changes in the dfmr1 mutant mitochondria. Taken together, our results illustrate the importance of dfmr1 for proper maintenance of nutrient homeostasis and mitochondrial function.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据