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A novel somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production.

作者信息

Zheng F-F, Zhu L-M, Zhou W-L, Zhang Y, Li M-Y, Zhu Y-C, Wang J-G, Zhu D-L, Gao P-J

机构信息

State Key Laboratory of Medical Genomics, Shanghai Key Laboratory of Hypertension and Department of Hypertension, Ruijin Hospital and Shanghai Institute of Hypertension, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Department of Cardiology, Tongji Hospital, Tongji University of Medicine, Shanghai, China.

出版信息

J Hum Hypertens. 2017 Nov;31(11):756-759. doi: 10.1038/jhh.2017.50. Epub 2017 Aug 24.

DOI:10.1038/jhh.2017.50
PMID:28974779
Abstract
摘要

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1
A novel somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production.钾离子通道蛋白KCNJ5上一个新的体细胞突变145 - 147delETEinsK增加醛固酮的生成。
J Hum Hypertens. 2017 Nov;31(11):756-759. doi: 10.1038/jhh.2017.50. Epub 2017 Aug 24.
2
Somatic mutations in the KCNJ5 gene raise the lateralization index: implications for the diagnosis of primary aldosteronism by adrenal vein sampling.KCNJ5 基因突变可提高侧化指数：对肾上腺静脉取样诊断原发性醛固酮增多症的影响。
J Clin Endocrinol Metab. 2012 Dec;97(12):E2307-13. doi: 10.1210/jc.2012-2342. Epub 2012 Sep 25.
3
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.醛固酮瘤中体细胞突变的遗传谱和临床相关性。
Hypertension. 2014 Aug;64(2):354-61. doi: 10.1161/HYPERTENSIONAHA.114.03419. Epub 2014 May 27.
4
The Concordance Between Imaging and Adrenal Vein Sampling Varies With Aldosterone-Driver Somatic Mutation.影像学与肾上腺静脉采样的一致性随醛固酮驱动体细胞突变而变化。
J Clin Endocrinol Metab. 2020 Oct 1;105(10):e3628-37. doi: 10.1210/clinem/dgaa482.
5
Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.醛固酮瘤中体细胞 ATP1A1、ATP2B3 和 KCNJ5 突变。
Hypertension. 2014 Jan;63(1):188-95. doi: 10.1161/HYPERTENSIONAHA.113.01733. Epub 2013 Sep 30.
6
New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.醛固酮瘤和遗传性醛固酮增多症的新见解：钾通道 KCNJ5 的突变。
Curr Opin Nephrol Hypertens. 2013 Mar;22(2):141-7. doi: 10.1097/MNH.0b013e32835cecf8.
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Complementary somatic mutations of KCNJ5, ATP1A1, and ATP2B3 in sporadic aldosterone producing adrenal adenomas.散发性醛固酮分泌性肾上腺腺瘤中KCNJ5、ATP1A1和ATP2B3的互补性体细胞突变。
Endocr Relat Cancer. 2014 Jan 8;21(1):L1-4. doi: 10.1530/ERC-13-0466. Print 2014 Feb.
8
Double adrenocortical adenomas harboring independent KCNJ5 and PRKACA somatic mutations.双肾上腺皮质腺瘤伴有独立的KCNJ5和PRKACA体细胞突变。
Eur J Endocrinol. 2016 Aug;175(2):K1-6. doi: 10.1530/EJE-16-0262. Epub 2016 May 10.
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Mutations in KCNJ5 determines presentation and likelihood of cure in primary hyperaldosteronism.KCNJ5基因的突变决定了原发性醛固酮增多症的表现及治愈可能性。
ANZ J Surg. 2015 Apr;85(4):279-83. doi: 10.1111/ans.12470. Epub 2013 Nov 26.
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Medicine. The genetics of primary aldosteronism.医学。原发性醛固酮增多症的遗传学
Science. 2011 Feb 11;331(6018):685-6. doi: 10.1126/science.1202887.

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Primary aldosteronism: molecular medicine meets public health.原发性醛固酮增多症：分子医学与公共卫生的交汇。
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Cardiovascular and metabolic characters of somatic mutations in primary aldosteronism.原发性醛固酮增多症中体细胞突变的心血管和代谢特征。
Front Endocrinol (Lausanne). 2023 Mar 6;14:1061704. doi: 10.3389/fendo.2023.1061704. eCollection 2023.
3
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.原发性醛固酮增多症的发病机制：对临床结局的影响。

本文引用的文献

1
Genetics of primary hyperaldosteronism.原发性醛固酮增多症的遗传学
Endocr Relat Cancer. 2016 Oct;23(10):R437-54. doi: 10.1530/ERC-16-0055. Epub 2016 Aug 2.
2
KCNJ5 Mutations: Sex, Salt and Selection.KCNJ5 突变：性别、盐分与选择
Horm Metab Res. 2015 Dec;47(13):953-8. doi: 10.1055/s-0035-1565090. Epub 2015 Nov 13.
3
A Meta-Analysis of Somatic KCNJ5 K(+) Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma.1636例醛固酮瘤患者体细胞KCNJ5钾通道突变的Meta分析
Front Endocrinol (Lausanne). 2022 Jun 23;13:927669. doi: 10.3389/fendo.2022.927669. eCollection 2022.
4
Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.采用福尔马林固定石蜡包埋原发性醛固酮增多症患者肾上腺肿瘤组织进行基因突变分析的方法。
Front Endocrinol (Lausanne). 2021 Jun 29;12:683588. doi: 10.3389/fendo.2021.683588. eCollection 2021.
5
Diseases caused by mutations in the Na/K pump α1 gene .由 Na/K 泵 α1 基因突变引起的疾病。
Am J Physiol Cell Physiol. 2021 Aug 1;321(2):C394-C408. doi: 10.1152/ajpcell.00059.2021. Epub 2021 Jul 7.
6
Primary aldosteronism diagnostics: mutations and hybrid steroid synthesis in aldosterone-producing adenomas.原发性醛固酮增多症的诊断：醛固酮瘤中的突变与混合类固醇合成
Gland Surg. 2020 Feb;9(1):3-13. doi: 10.21037/gs.2019.10.22.
7
Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function.与原发性醛固酮增多症相关的钠钾泵突变导致功能丧失。
Biochemistry. 2019 Apr 2;58(13):1774-1785. doi: 10.1021/acs.biochem.9b00051. Epub 2019 Mar 14.
J Clin Endocrinol Metab. 2015 Aug;100(8):E1089-95. doi: 10.1210/jc.2015-2149. Epub 2015 Jun 11.
4
Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma.中国原发性醛固酮增多症患者体细胞突变的临床特征
Hypertension. 2015 Mar;65(3):622-8. doi: 10.1161/HYPERTENSIONAHA.114.03346. Epub 2015 Jan 26.
5
A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.一种新的KCNJ5基因插入T149体细胞突变，位于选择性过滤器附近但在其之外，通过丧失对钾的选择性导致难治性高血压。
J Clin Endocrinol Metab. 2014 Sep;99(9):E1765-73. doi: 10.1210/jc.2014-1927. Epub 2014 Jul 24.
6
Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas.在肾上腺产生醛固酮的腺瘤中发现的突变 KCNJ5 的药理学和病理生理学。
Endocrinology. 2014 Apr;155(4):1353-62. doi: 10.1210/en.2013-1944. Epub 2014 Feb 7.
7
Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.在原发性醛固酮增多症的大样本散发病例中，种系突变和罕见编码单核苷酸多态性在 KCNJ5 钾通道中的作用。
Hypertension. 2014 Apr;63(4):783-9. doi: 10.1161/HYPERTENSIONAHA.113.02234. Epub 2014 Jan 13.
8
Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.在 HAC-15 细胞中表达钾通道突变体 KCNJ5 T158A 会增加醛固酮的合成。
Endocrinology. 2012 Apr;153(4):1774-82. doi: 10.1210/en.2011-1733. Epub 2012 Feb 7.
9
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.肾上腺醛固酮产生腺瘤和遗传性高血压中的 K+ 通道突变。
Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785.
10
Ion conduction and selectivity in K(+) channels.钾离子通道中的离子传导与选择性
Annu Rev Biophys Biomol Struct. 2005;34:153-71. doi: 10.1146/annurev.biophys.34.040204.144655.