PARK基因家族在骨骼肌肌病中的研究进展

doi:10.16288/j.yczz.22-105

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Hereditas(Beijing) ›› 2022, Vol. 44 ›› Issue (7): 545-555.doi: 10.16288/j.yczz.22-105

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The roles of PARK gene family in myopathy

Shuang Zhang(), Shanshan Guo, Ruwen Wang, Renyan Ma, Xianmin Wu, Peijie Chen(), Ru Wang()

School of Kinesiology, Shanghai University of Sport, Shanghai 200438, China

Received:2022-04-11 Revised:2022-05-13 Online:2022-07-20 Published:2022-06-06
Contact: Chen Peijie,Wang Ru E-mail:zhangshuang1194@126.com;chenpeijie@sus.edu.cn;wangru@sus.edu.cn
Supported by:
Supported by the National Key R&D Program of China(2020YFA0803800);the National Natural Science Foundation of China No(31971097);Shanghai Academic/technology Research Leader of the Shanghai Science and Technology Innovation Program No(21XD1403200);the Construction Project of High-Level Local Universities in Shanghai and Multidisciplinary Cross-innovation Team of Metabolic Diseases in Chinese Medicine No(ZYYCXTD-D-202001)

Abstract

Abstract:

The causative gene family of Parkinson's disease, PARK, plays important roles in the regulation of skeletal myopathy and is also involved in multiple biological processes, such as the modification of motor neurons, the transmission of nerve signals at the nerve-muscle junction, the regulation of skeletal muscle energy metabolism and mitochondrial quality, and the expression of myogenesis factors. PARK gene family regulates skeletal muscle mass, functions through a multi-level regulatory system, and plays a key role in the occurrence and development of skeletal myopathy. In this review, we summarize the structural characteristics, functions, and research of the PARK gene family in skeletal myopathy, providing a theoretical foundation and future research direction for in-depth study of the molecular mechanism for skeletal myopathy and giving references to further study on the role of PARK family in the development, the pathology, clinical diagnosis, and treatment of skeletal myopathy.

Key words: PARK gene family, inclusion body myositis, infective myositis, atrophy, duchenne, skeletal muscle injury, mitochondrial myopathy

Shuang Zhang, Shanshan Guo, Ruwen Wang, Renyan Ma, Xianmin Wu, Peijie Chen, Ru Wang. The roles of PARK gene family in myopathy[J]. Hereditas(Beijing), 2022, 44(7): 545-555.

Figures/Tables 2

Table 1

The regulation of PARK in myopathy"

PARK基因	肌病类型	生物学功能	对骨骼肌组织的调控	参考文献
Park1 (α-syn)	包涵体肌炎	促进淀粉样β前体蛋白异常聚集	促进肌纤维空泡变性及内涵体形成	[23,24]
Park2 (parkin)	包涵体肌炎	促进淀粉样β前体蛋白降解	抑制肌纤维空泡变性及内涵体形成	[25]
Park2 (parkin)	包涵体肌炎	增加细胞对毒性物质的耐受性	促进线粒体稳态平衡,改善肌细胞功能	[26]
Park7 (DJ-1)	包涵体肌炎	发挥抗氧化作用	保护线粒体功能,改善肌细胞功能	[27]
Park2 (parkin)	病毒性肌炎	启动线粒体自噬	清除功能失调线粒体,改善肌细胞功能	[28]
Park6 (PINK1)	病毒性肌炎	启动线粒体自噬	清除功能失调线粒体,改善肌细胞功能	[29]
Park2 (parkin)	肌源性肌萎缩	促进泛素-蛋白酶体水平	激活蛋白酶体介导的蛋白质降解途径	[30]
Park2 (parkin)	肌源性肌萎缩	促进泛素-蛋白酶体水平	过度积累线粒体自噬水平,促进骨骼肌蛋白质降解	[32]
Park7 (DJ-1)	肌源性肌萎缩	促进泛素-蛋白酶体水平	抑制丝裂原蛋白激酶水平,抑制骨骼肌蛋白质降解	[33]
Park14 (PLA2G6)	肌源性肌萎缩	调节线粒体内膜脂质代谢平衡	促进骨骼肌保护性激素-前列腺素的产生	[35]
Park5 (UCHL1)	肌源性肌萎缩	抑制mTORC1表达水平	抑制骨骼肌蛋白质合成	[37]
Park5 (UCHL1)	肌源性肌萎缩	促进肌源性因子Myod及Myogenin表达	促进肌卫星细胞增殖,抑制其分化	[38]
Park2 (parkin)	肌肉减少症	增加线粒体含量并抑制氧化应激水平	抑制骨骼肌细胞凋亡	[40]
Park2 (parkin)	肌肉减少症	通过线粒体自噬清除衰老的线粒体	促进骨骼肌受损线粒体的降解	[41~43,45]
Park1 (α-syn)	神经源性肌病 (神经-接头)	维持神经-肌肉接头乙酰胆碱平衡	促进骨骼肌收缩信号的传递	[47,48,49,50]
Park5 (UCHL1)	神经源性肌病 (共济失调)	抑制泛素-蛋白酶体水平	抑制肌纤维蛋白的降解	[51]
Park9 (ATP13A2)	神经源性肌病 (共济失调)	抑制自噬体沉积及线粒体障碍	抑制骨骼肌包涵体-脂色素沉积	[52]
Park1 (α-syn)	神经源性肌病 (脊髓肌萎缩)	修复受损的运动神经元	改善异常的神经接头及运动神经元	[53]
Park2 (parkin)	线粒体肌病	通过线粒体自噬修复受损线粒体功能	修复肌肉力量	[54]
Park6 (PINK1)	线粒体肌病	通过线粒体自噬修复受损线粒体功能	修复肌肉力量	[55]
Park5 (UCHL1)	线粒体肌病	促进线粒体氧化磷酸化相关蛋白降解	损伤线粒体氧化磷酸化代谢水平	[57]
Park2 (parkin)	线粒体肌病	发挥抗氧化作用,增强线粒体膜电位	抑制骨骼肌细胞凋亡	[58]
Park7 (DJ-1)	线粒体肌病	发挥抗氧化作用	促进骨骼肌钙离子稳态平衡	[59]
Park7 (DJ-1)	线粒体肌病	发挥抗氧化作用	抑制能量过剩机体骨骼肌能量的消耗	[60]
Park2 (parkin)	线粒体肌病	促进线粒体结构的完整性	缓解骨骼肌张力障碍	[61]
Park2 (parkin)	线粒体肌病	抑制缺失细胞色素C肌纤维的异常积累	抑制骨骼肌衰老	[62]
Park6 (PINK1)	线粒体肌病	保护线粒体结构完整性	抑制间接飞行肌退化	[63]
Park14 (PLA2G6)	杜氏肌营养不良	促进肌纤维钙离子过度内流	骨骼肌营养不良	[68,69]
Park2 (parkin)	肌损伤	促进线粒体自噬	促进肌细胞分化及融合	[70]

Table 1

Fig. 1

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The roles of PARK gene family in myopathy

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