Cellular and Molecular Neurobiology Unit, Indian Institute of Technology Jodhpur, Jodhpur, Rajasthan, 342037, India.
Department of Biochemistry, School of Life Sciences, Central University of Rajasthan, NH-8 Bandarsindri, Ajmer, Rajasthan, 305817, India.
Cell Mol Life Sci. 2019 Jun;76(11):2093-2110. doi: 10.1007/s00018-019-03055-y. Epub 2019 Mar 2.
Cellular protein quality control (PQC) plays a significant role in the maintenance of cellular homeostasis. Failure of PQC mechanism may lead to various neurodegenerative diseases due to accumulation of aberrant proteins. To avoid such fatal neuronal conditions PQC employs autophagy and ubiquitin proteasome system (UPS) to degrade misfolded proteins. Few quality control (QC) E3 ubiquitin ligases interplay an important role to specifically recognize misfolded proteins for their intracellular degradation. Leucine-rich repeat and sterile alpha motif-containing 1 (LRSAM1) is a really interesting new gene (RING) class protein that possesses E3 ubiquitin ligase activity with promising applications in PQC. LRSAM1 is also known as RING finger leucine repeat rich (RIFLE) or TSG 101-associated ligase (TAL). LRSAM1 has various cellular functions as it modulates the protein aggregation, endosomal sorting machinery and virus egress from the cells. Thus, this makes LRSAM1 interesting to study not only in protein conformational disorders such as neurodegeneration but also in immunological and other cancerous disorders. Furthermore, LRSAM1 interacts with both cellular protein degradation machineries and hence it can participate in maintenance of overall cellular proteostasis. Still, more research work on the quality control molecular functions of LRSAM1 is needed to comprehend its roles in various protein aggregatory diseases. Earlier findings suggest that in a mouse model of Charcot-Marie-Tooth (CMT) disease, lack of LRSAM1 functions sensitizes peripheral axons to degeneration. It has been observed that in CMT the patients retain dominant and recessive mutations of LRSAM1 gene, which encodes most likely a defective protein. However, still the comprehensive molecular pathomechanism of LRSAM1 in neuronal functions and neurodegenerative diseases is not known. The current article systematically represents the molecular functions, nature and detailed characterization of LRSAM1 E3 ubiquitin ligase. Here, we review emerging molecular mechanisms of LRSAM1 linked with neurobiological functions, with a clear focus on the mechanism of neurodegeneration and also on other diseases. Better understanding of LRSAM1 neurobiological and intracellular functions may contribute to develop promising novel therapeutic approaches, which can also propose new lines of molecular beneficial targets for various neurodegenerative diseases.
细胞蛋白质质量控制(PQC)在维持细胞内稳态方面起着重要作用。由于异常蛋白的积累,PQC 机制的失败可能导致各种神经退行性疾病。为了避免这种致命的神经元状况,PQC 利用自噬和泛素蛋白酶体系统(UPS)来降解错误折叠的蛋白质。少数质量控制(QC)E3 泛素连接酶相互作用,对于特定识别其细胞内降解的错误折叠蛋白起着重要作用。富含亮氨酸重复和无菌α基序的含 1 个(LRSAM1)是一种真正有趣的新基因(RING)类蛋白,具有 E3 泛素连接酶活性,在 PQC 中有广阔的应用前景。LRSAM1 也称为 RING 指亮氨酸重复丰富(RIFLE)或 TSG 101 相关连接酶(TAL)。LRSAM1 具有多种细胞功能,因为它调节蛋白聚集、内体分拣机制和病毒从细胞中的逸出。因此,这使得 LRSAM1 不仅在神经退行性等蛋白构象障碍疾病中具有研究意义,而且在免疫学和其他癌症疾病中也具有研究意义。此外,LRSAM1 与细胞蛋白降解机制相互作用,因此它可以参与维持整体细胞蛋白稳态。然而,仍然需要更多关于 LRSAM1 质量控制分子功能的研究工作,以理解其在各种蛋白聚集疾病中的作用。早期研究发现,在 Charcot-Marie-Tooth(CMT)疾病的小鼠模型中,缺乏 LRSAM1 功能会使周围轴突易发生退化。已经观察到,在 CMT 中,患者保留了 LRSAM1 基因的显性和隐性突变,该基因编码的很可能是一种有缺陷的蛋白。然而,LRSAM1 在神经元功能和神经退行性疾病中的全面分子病理机制仍不清楚。本文系统地阐述了 LRSAM1 E3 泛素连接酶的分子功能、性质和详细特征。在这里,我们综述了与神经生物学功能相关的 LRSAM1 的新兴分子机制,重点关注神经退行性变的机制以及其他疾病。更好地理解 LRSAM1 的神经生物学和细胞内功能可能有助于开发有前途的新型治疗方法,也可以为各种神经退行性疾病提出新的分子有益靶点。