TRP通道与遗传性疾病
TRP Channels and Inherited Diseases
DOI: 10.12677/HJBM.2023.132032, PDF,   
作者: 张文赫*, 朱家煊：浙江工业大学长三角绿色制药协同创新中心，浙江 杭州
关键词: TRP通道；遗传性疾病；离子通道；TRP Channels； Inherited Diseases； Ion Channels
摘要: 瞬时受体电位(TRP)通道属于一个大而多样的整合蛋白家族，作为热、化学和机械刺激的细胞传感器出现，并且是Ca2+信号的主要贡献者，在多种生理和病理过程中发挥重要作用。TRP通道与许多疾病有关，包括了众多编码TRP通道的基因缺陷引起的遗传性疾病(TRP通道病)。本文主要对TRP通道与相应遗传性疾病进行综述。
Abstract: Transient receptor potential (TRP) channels belong to a large and diverse family of integrins, which appear as cellular sensors for thermal, chemical and mechanical stimulation, and are the main contributors to Ca2+ signals, playing an important role in a variety of physiological and pathological processes. TRP channel is related to many diseases, including hereditary diseases caused by many genetic defects encoding TRP channel (TRP channel disease). This article mainly reviews the TRP channels and related hereditary diseases.
文章引用：张文赫, 朱家煊. TRP通道与遗传性疾病[J]. 生物医学, 2023, 13(2): 282-286. https://doi.org/10.12677/HJBM.2023.132032

参考文献

[1] Cosens, D.J. and Manning, A. (1969) Abnormal Electroretinogram from a Drosophila Mutant. Nature, 224, 285-287. [Google Scholar] [CrossRef] [PubMed]
[2] Minke, B., Wu, C. and Pak, W.L. (1975) Induction of Photoreceptor Voltage Noise in the Dark in Drosophila Mutant. Nature, 258, 84-87. [Google Scholar] [CrossRef] [PubMed]
[3] Madej, M.G. and Ziegler, C.M. (2018) Dawning of a New Era in TRP Channel Structural Biology by Cryo-Electron Microscopy. Pflügers Archiv, 470, 213-225. [Google Scholar] [CrossRef] [PubMed]
[4] Clapham, D.E. (2003) TRP Channels as Cellular Sensors. Nature, 426, 517-524. [Google Scholar] [CrossRef] [PubMed]
[5] Nilius, B. and Szallasi, A. (2014) Transient Receptor Potential Channels as Drug Targets: From the Science of Basic Research to the Art of Medicine. Pharmacological Reviews, 66, 676-814. [Google Scholar] [CrossRef] [PubMed]
[6] Cavanaugh, D.J., et al. (2011) Trpv1 Reporter Mice Reveal Highly Restricted Brain Distribution and Functional Expression in Arteriolar Smooth Muscle Cells. Journal of Neuroscience, 31, 5067-5077. [Google Scholar] [CrossRef] 
[7] Tóth, B.I., et al. (2009) Transient Receptor Potential Vanilloid-1 Signaling as a Regulator of Human Sebocyte Biology. Journal of Investigative Dermatology, 129, 329-339. [Google Scholar] [CrossRef] [PubMed]
[8] Cao, E., et al. (2013) TRPV1 Channels Are Intrinsically Heat Sensitive and Negatively Regulated by Phosphoinositide Lipids. Neuron, 77, 667-679. [Google Scholar] [CrossRef] [PubMed]
[9] Cao, E., et al. (2013) TRPV1 Structures in Distinct Conformations Reveal Activation Mechanisms. Nature, 504, 113-118. [Google Scholar] [CrossRef] [PubMed]
[10] Zhang, K., Julius, D. and Cheng, Y. (2021) Structural Snapshots of TRPV1 Reveal Mechanism of Polymodal Functionality. Cell, 184, 5138-5150.e12. [Google Scholar] [CrossRef] [PubMed]
[11] Clapham, D.E. (2007) Calcium Signaling. Cell, 131, 1047-1058. [Google Scholar] [CrossRef] [PubMed]
[12] Yin, Y., et al. (2018) Structure of the Cold- and Menthol-Sensing Ion Channel TRPM8. Science, 359, 237-241. [Google Scholar] [CrossRef] [PubMed]
[13] Guo, J., et al. (2017) Structures of the Calcium-Activated, Non-Selective Cation Channel TRPM4. Nature, 552, 205-209. [Google Scholar] [CrossRef] [PubMed]
[14] Naert, R., et al. (2020) TRPA1 Gene Variants Hurting Our Feelings. Pflügers Archiv, 472, 953-960. [Google Scholar] [CrossRef] [PubMed]
[15] AlTalbishi, A., et al. (2019) TRPM1 Mutations Are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations. Scientific Reports, 9, Article No. 12047. [Google Scholar] [CrossRef] [PubMed]
[16] Koike, C., et al. (2010) TRPM1 Is a Component of the Retinal ON Bipolar Cell Transduction Channel in the mGluR6 Cascade. Proceedings of the National Academy of Sciences, 107, 332-337. [Google Scholar] [CrossRef] [PubMed]
[17] Van Hoeymissen, E., et al. (2020) Gain of Channel Function and Modified Gating Properties in TRPM3 Mutants Causing Intellectual Disability and Epilepsy. Elife, 9, e57190. [Google Scholar] [CrossRef] 
[18] Kruse, M., et al. (2009) Impaired Endocytosis of the Ion Channel TRPM4 Is Associated with Human Progressive Familial Heart Block Type I. Journal of Clinical Investigation, 119, 2737-2744. [Google Scholar] [CrossRef] 
[19] Liu, H., et al. (2010) Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease. Circulation: Cardiovascular Genetics, 3, 374-385. [Google Scholar] [CrossRef] 
[20] Stallmeyer, B., et al. (2012) Mutational Spectrum in the Ca(2+)-Activated Cation Channel Gene TRPM4 in Patients with Cardiac Conductance Disturbances. Human Mutation, 33, 109-117. [Google Scholar] [CrossRef] [PubMed]
[21] Nilius, B. and Owsianik, G. (2010) Transient Receptor Potential Channelopathies. Pflügers Archiv, 460, 437-450. [Google Scholar] [CrossRef] [PubMed]
[22] Stritt, S., et al. (2016) Defects in TRPM7 Channel Function Deregulate Thrombopoiesis through Altered Cellular Mg(2+) Homeostasis and Cytoskeletal Architecture. Nature Communications, 7, 11097. [Google Scholar] [CrossRef] [PubMed]
[23] Audrézet, M.P., et al. (2012) Autosomal Dominant Polycystic Kidney Disease: Comprehensive Mutation Analysis of PKD1 and PKD2 in 700 Unrelated Patients. Human Mutation, 33, 1239-1250. [Google Scholar] [CrossRef] [PubMed]
[24] Wu, G., et al. (2000) Cardiac Defects and Renal Failure in Mice with Targeted Mutations in Pkd2. Nature Genetics, 24, 75-78. [Google Scholar] [CrossRef] [PubMed]
[25] Ni, C., et al. (2016) A Novel Mutation in TRPV3 Gene Causes Atypical Familial Olmsted Syndrome. Scientific Reports, 6, Article No. 21815. [Google Scholar] [CrossRef] [PubMed]
[26] Nilius, B. and Voets, T. (2013) The Puzzle of TRPV4 Channelopathies. EMBO Reports, 14, 152-163. [Google Scholar] [CrossRef] [PubMed]
[27] Rautenberg, S., et al. (2022) Expanding the Toolbox: Novel Modulators of Endolysosomal Cation Channels. In: Handbook of Experimental Pharmacology, Springer, Berlin, 1-28. [Google Scholar] [CrossRef] [PubMed]
[28] Riehle, M., et al. (2016) TRPC6 G757D Loss-of-Function Mutation Associates with FSGS. Journal of the American Society of Nephrology, 27, 2771-2783. [Google Scholar] [CrossRef] 

为你推荐