Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin.
Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin.
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DOI：
10.3390/ijerph18041794
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发表时间：
2021-02-12
影响因子：
--
通讯作者：
Rebelo S
中科院分区：
文献类型：
--
作者：
Mateus T;Martins F;Nunes A;Herdeiro MT;Rebelo S
肌强直性营养不良1型（DM1）是一种常染色体显性遗传性多系统疾病，以进行性远端肌无力和肌强直为特征。尽管付出了巨大的努力，但DM1的病理生理机制仍然难以捉摸。本文综述了DM1患者的代谢改变及其与脂质蛋白的关系。我们首先简要介绍DM1的流行病学、生理病理和系统特征。本文对DM1的分子机制进行了探讨和总结。概述代谢综合征，血脂异常，并总结代谢改变观察患者DM1提出。DM1患者表现出代谢改变的临床证据，即甘油三酯和低密度脂蛋白水平升高，胰岛素和葡萄糖水平升高，腹部肥胖增加，高密度脂蛋白水平降低。这些代谢改变可能与脂质有关，脂质是磷脂酶，调节甘油三酰水平、磷脂、脂质信号通路，是转录共激活剂。此外，脂质对自噬、炎性体激活和脂蛋白合成也很重要。我们证明了脂质与DM1患者代谢改变的关联，这为进一步的临床研究和适当探索脂质蛋白作为代谢综合征的治疗靶点提供了支持，这对控制包括DM1在内的许多疾病都很重要。
Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary and multisystemic disease, characterized by progressive distal muscle weakness and myotonia. Despite huge efforts, the pathophysiological mechanisms underlying DM1 remain elusive. In this review, the metabolic alterations observed in patients with DM1 and their connection with lipin proteins are discussed. We start by briefly describing the epidemiology, the physiopathological and systemic features of DM1. The molecular mechanisms proposed for DM1 are explored and summarized. An overview of metabolic syndrome, dyslipidemia, and the summary of metabolic alterations observed in patients with DM1 are presented. Patients with DM1 present clinical evidence of metabolic alterations, namely increased levels of triacylglycerol and low-density lipoprotein, increased insulin and glucose levels, increased abdominal obesity, and low levels of high-density lipoprotein. These metabolic alterations may be associated with lipins, which are phosphatidate phosphatase enzymes that regulates the triacylglycerol levels, phospholipids, lipid signaling pathways, and are transcriptional co-activators. Furthermore, lipins are also important for autophagy, inflammasome activation and lipoproteins synthesis. We demonstrate the association of lipin with the metabolic alterations in patients with DM1, which supports further clinical studies and a proper exploration of lipin proteins as therapeutic targets for metabolic syndrome, which is important for controlling many diseases including DM1.
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作者：
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