|
|
TRP通道与遗传性疾病
|
Abstract:
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。
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.
| [1] | Cosens, D.J. and Manning, A. (1969) Abnormal Electroretinogram from a Drosophila Mutant. Nature, 224, 285-287.
https://doi.org/10.1038/224285a0 |
| [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. https://doi.org/10.1038/258084a0 |
| [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. https://doi.org/10.1007/s00424-018-2107-2 |
| [4] | Clapham, D.E. (2003) TRP Channels as Cellular Sensors. Nature, 426, 517-524. https://doi.org/10.1038/nature02196 |
| [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. https://doi.org/10.1124/pr.113.008268 |
| [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.
https://doi.org/10.1523/JNEUROSCI.6451-10.2011 |
| [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. https://doi.org/10.1038/jid.2008.258 |
| [8] | Cao, E., et al. (2013) TRPV1 Channels Are Intrinsically Heat Sensitive and Negatively Regulated by Phosphoinositide Lipids. Neuron, 77, 667-679. https://doi.org/10.1016/j.neuron.2012.12.016 |
| [9] | Cao, E., et al. (2013) TRPV1 Structures in Distinct Conformations Reveal Activation Mechanisms. Nature, 504, 113-118. https://doi.org/10.1038/nature12823 |
| [10] | Zhang, K., Julius, D. and Cheng, Y. (2021) Structural Snapshots of TRPV1 Reveal Mechanism of Polymodal Functionality. Cell, 184, 5138-5150.e12. https://doi.org/10.1016/j.cell.2021.08.012 |
| [11] | Clapham, D.E. (2007) Calcium Signaling. Cell, 131, 1047-1058. https://doi.org/10.1016/j.cell.2007.11.028 |
| [12] | Yin, Y., et al. (2018) Structure of the Cold- and Menthol-Sensing Ion Channel TRPM8. Science, 359, 237-241.
https://doi.org/10.1126/science.aan4325 |
| [13] | Guo, J., et al. (2017) Structures of the Calcium-Activated, Non-Selective Cation Channel TRPM4. Nature, 552, 205-209. https://doi.org/10.1038/nature24997 |
| [14] | Naert, R., et al. (2020) TRPA1 Gene Variants Hurting Our Feelings. Pflügers Archiv, 472, 953-960.
https://doi.org/10.1007/s00424-020-02397-y |
| [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.
https://doi.org/10.1038/s41598-019-46811-7 |
| [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. https://doi.org/10.1073/pnas.0912730107 |
| [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. https://doi.org/10.7554/eLife.57190 |
| [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. https://doi.org/10.1172/JCI38292 |
| [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. https://doi.org/10.1161/CIRCGENETICS.109.930867 |
| [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. https://doi.org/10.1002/humu.21599 |
| [21] | Nilius, B. and Owsianik, G. (2010) Transient Receptor Potential Channelopathies. Pflügers Archiv, 460, 437-450.
https://doi.org/10.1007/s00424-010-0788-2 |
| [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.
https://doi.org/10.1038/ncomms11097 |
| [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. https://doi.org/10.1002/humu.22103 |
| [24] | Wu, G., et al. (2000) Cardiac Defects and Renal Failure in Mice with Targeted Mutations in Pkd2. Nature Genetics, 24, 75-78. https://doi.org/10.1038/71724 |
| [25] | Ni, C., et al. (2016) A Novel Mutation in TRPV3 Gene Causes Atypical Familial Olmsted Syndrome. Scientific Reports, 6, Article No. 21815. https://doi.org/10.1038/srep21815 |
| [26] | Nilius, B. and Voets, T. (2013) The Puzzle of TRPV4 Channelopathies. EMBO Reports, 14, 152-163.
https://doi.org/10.1038/embor.2012.219 |
| [27] | Rautenberg, S., et al. (2022) Expanding the Toolbox: Novel Modulators of Endolysosomal Cation Channels. In: Handbook of Experimental Pharmacology, Springer, Berlin, 1-28. https://doi.org/10.1007/164_2022_605 |
| [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. https://doi.org/10.1681/ASN.2015030318 |
