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首页> 外文期刊>Biochimica et biophysica acta. Molecular basis of disease: BBA >FMRpoIyG alters mitochondria' transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]
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FMRpoIyG alters mitochondria' transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]

机译：FMRPOIYG在脆弱的X相关震颤/共济失调综合征中改变了线粒体的转录物水平和呼吸链复杂组装[FXTAS]

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摘要

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by an expansion of 55 to 200 CGG repeats (premutation) in FMR1. These CGG repeats are Repeat Associated non-ATG (RAN) translated into a small and pathogenic protein, FMRpoIyG. The cellular and molecular mechanisms of FMRpoIyG toxicity are unclear. Various mitochondrial dysfunctions have been observed in FXTAS patients and animal models. However, the causes of these mitochondrial alterations are not well understood. In the current study, we investigated interaction of FMRpoIyG with mitochondria and its role in modulating mitochondrial functions. Beside nuclear inclusions, FMRpoIyG also formed small cytosolic aggregates that interact with mitochondria both in cell and mouse model of FXTAS. Importantly, expression of FMRpoIyG reduces ATP levels, mitochondrial transmembrane potential, mitochondrial supercomplexes assemblies and activities and expression of mitochondrial DNA encoded transcripts in cell and animal model of FXTAS, as well as in FXTAS patient brain tissues. Overall, these results suggest that FMRpolyG alters mitochondrial functions, bioenergetics and initiates cell death. The further study in this direction will help to establish the role of mitochondria in FXTAS conditions.
机译：脆弱的X相关的震颤/共济失调综合征（FXTAS）是由FMR1中的55至200 CGG的扩展引起的遗传神经变性障碍。这些CGG重复是重复相关的非ATG（RAN）转化为小和致病蛋白，FMRPOIYG。 FMRPOIYG毒性的细胞和分子机制尚不清楚。在FXTAS患者和动物模型中观察到各种线粒体功能障碍。然而，这些线粒体改变的原因尚不清楚。在目前的研究中，我们研究了FMRPOIYG与线粒体的相互作用及其在调节线粒体功能中的作用。在核夹杂物之外，FMRPOIYG还形成了小细胞溶质聚集体，其与线粒体相互作用，无论是FXTAS的细胞和小鼠模型。重要的是，FMRPOIYG的表达降低了ATP水平，线粒体跨膜电位，线粒体超复杂组件和FXTAS中细胞和动物模型中的线粒体DNA编码转录物的组织和活性，以及​​在FXTAS患者脑组织中。总体而言，这些结果表明，FMRPOLYG改变了线粒体功能，生物能器和引发细胞死亡。此方向的进一步研究将有助于建立线粒体在FXTAS条件下的作用。

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