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Genetics of Primary Aldosteronism.
Scholl UI. Scholl UI. Hypertension. 2022 May;79(5):887-897. doi: 10.1161/HYPERTENSIONAHA.121.16498. Epub 2022 Feb 10. Hypertension. 2022. PMID: 35139664 Free PMC article. Review.
More than 90% of aldosterone-producing adenomas carry somatic mutations in K(+) channel Kir3.4 (KCNJ5), Ca(2+) channel Ca(V)1.3 (CACNA1D), alpha-1 subunit of the Na(+)/K(+) ATPase (ATP1A1), plasma membrane Ca(2+) transporting ATPase 3 (ATP2B3), Ca(2+) channel Ca(V)3.2 (CACNA1H), …
More than 90% of aldosterone-producing adenomas carry somatic mutations in K(+) channel Kir3.4 (KCNJ5), Ca(2+) channel Ca(V)1.3 (CACNA1D), a …
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.
Xu P, Chen Z, Ma J, Shan Y, Wang Y, Xie B, Zheng D, Guo F, Song X, Gao G, Ye K, Liu Y, Pan G, Jiang B, Peng F, Zhong X. Xu P, et al. Hum Genet. 2023 Apr;142(4):577-593. doi: 10.1007/s00439-023-02531-7. Epub 2023 Mar 25. Hum Genet. 2023. PMID: 36964785
CLCN2 encodes a two-pore homodimeric chloride channel protein (CLC-2) that is widely expressed in human tissues. ...Additionally, patient iPSC-derived RPE cells carrying the CLCN2 mutation exhibited dysfunctional ClC-2 chloride channels a …
CLCN2 encodes a two-pore homodimeric chloride channel protein (CLC-2) that is widely expressed in human tissues. ...Add …
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
Pitsava G, Faucz FR, Stratakis CA, Hannah-Shmouni F. Pitsava G, et al. Curr Cardiol Rep. 2022 Sep;24(9):1189-1195. doi: 10.1007/s11886-022-01735-z. Epub 2022 Jul 16. Curr Cardiol Rep. 2022. PMID: 35841527 Free PMC article. Review.
Some of these genes are found mutated in the germline state (CYP11B2, CLCN2, KCNJ5, CACNA1H, and CACNA1D), leading then to familial hyperaldosteronism, and often BAH rather than single APAs. ...
Some of these genes are found mutated in the germline state (CYP11B2, CLCN2, KCNJ5, CACNA1H, and CACNA1D), leading then to familial h …
Brain imaging findings in CLCN2-related leukoencephalopathy.
Abreu VS, Tarrio J, Pinto E, Figueiroa S, Alves JE. Abreu VS, et al. Pediatr Radiol. 2023 May;53(5):1027-1032. doi: 10.1007/s00247-022-05577-3. Epub 2022 Dec 24. Pediatr Radiol. 2023. PMID: 36565320
CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. ...We report a paediatric clinical case of CLCN2-relat …
CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 …
Electro-steric opening of the CLC-2 chloride channel gate.
De Jesús-Pérez JJ, Méndez-Maldonado GA, López-Romero AE, Esparza-Jasso D, González-Hernández IL, De la Rosa V, Gastélum-Garibaldi R, Sánchez-Rodríguez JE, Arreola J. De Jesús-Pérez JJ, et al. Sci Rep. 2021 Jun 23;11(1):13127. doi: 10.1038/s41598-021-92247-3. Sci Rep. 2021. PMID: 34162897 Free PMC article.
The widely expressed two-pore homodimeric inward rectifier CLC-2 chloride channel regulates transepithelial chloride transport, extracellular chloride homeostasis, and neuronal excitability. ...We concluded that the CLC-2 gate is formed by Y561-E213 an …
The widely expressed two-pore homodimeric inward rectifier CLC-2 chloride channel regulates transepithelial chloride transport …
Genome-wide CRISPR screens identify CLC-2 as a drug target for anti-herpesvirus therapy: tackling herpesvirus drug resistance.
Yang F, Wei N, Cai S, Liu J, Lan Q, Zhang H, Shang L, Zheng B, Wang M, Liu Y, Zhang L, Fei C, Tong W, Liu C, Kuang E, Tong G, Gu F. Yang F, et al. Sci China Life Sci. 2025 Feb;68(2):515-526. doi: 10.1007/s11427-023-2627-8. Epub 2024 Oct 12. Sci China Life Sci. 2025. PMID: 39428427
The results demonstrated that type 2 voltage-gated chloride channels (CLC-2) encoded by one of the identified genes, CLCN2, is a potential drug target for anti-herpesvirus therapy. ...The study's findings suggest that targeting host-cell factors such as CL …
The results demonstrated that type 2 voltage-gated chloride channels (CLC-2) encoded by one of the identified genes, CLCN2 …
Functional Analysis and Clinical Significance of Chloride Channel 2 Expression in Esophageal Squamous Cell Carcinoma.
Mitsuda M, Shiozaki A, Kudou M, Shimizu H, Arita T, Kosuga T, Konishi H, Komatsu S, Kubota T, Fujiwara H, Okamoto K, Kishimoto M, Konishi E, Otsuji E. Mitsuda M, et al. Ann Surg Oncol. 2021 Sep;28(9):5384-5397. doi: 10.1245/s10434-021-09659-8. Epub 2021 Feb 9. Ann Surg Oncol. 2021. PMID: 33565032
RESULTS: The strong expression of CLCN2 was detected in TE5 and KYSE70 cells. Downregulated expression of CLCN2 enhanced proliferation and decreased apoptosis, whereas its upregulation inhibited proliferation and increased apoptosis. ...The microarray analysis demon …
RESULTS: The strong expression of CLCN2 was detected in TE5 and KYSE70 cells. Downregulated expression of CLCN2 enhanced proli …
Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect.
Fu SJ, Hu MC, Hsiao CT, Cheng AT, Chen TY, Jeng CJ, Tang CY. Fu SJ, et al. Int J Mol Sci. 2021 May 30;22(11):5859. doi: 10.3390/ijms22115859. Int J Mol Sci. 2021. PMID: 34070744 Free PMC article.
The ClC-2 channel plays a critical role in maintaining ion homeostasis in the brain and the testis. Loss-of-function mutations in the ClC-2-encoding human CLCN2 gene are linked to the white matter disease leukodystrophy. ...
The ClC-2 channel plays a critical role in maintaining ion homeostasis in the brain and the testis. Loss-of-function mutations …
Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?
Jeworutzki E, Tüttelmann F, Rothenberg I, Pusch M, Schreiber JA, Kliesch S, Wünsch B, Strutz-Seebohm N, Seebohm G. Jeworutzki E, et al. Cell Physiol Biochem. 2021 Jun 19;55(3):301-310. doi: 10.33594/000000376. Cell Physiol Biochem. 2021. PMID: 34148308 Free article.
Using genetic screening in infertile men identified a loss of CLC-2 associated with sperm deficiency. RESULTS: Increased genetic variation caused functionally impaired Neanderthals CLC-2 channels. ...Interestingly and consistent with this hypothesis, l …
Using genetic screening in infertile men identified a loss of CLC-2 associated with sperm deficiency. RESULTS: Increased genet …
Unravelling the Genetic Basis of Primary Aldosteronism.
Mourtzi N, Sertedaki A, Markou A, Piaditis GP, Charmandari E. Mourtzi N, et al. Nutrients. 2021 Mar 8;13(3):875. doi: 10.3390/nu13030875. Nutrients. 2021. PMID: 33800142 Free PMC article. Review.
On the other hand, germline variants in CLCN2, KCNJ5, CACNA1H, and CACNA1D genes have been implicated in the pathogenesis of the familial forms of PA, FH-II, FH-III, and F-IV, as well as PA associated with seizures and neurological abnormalities. ...
On the other hand, germline variants in CLCN2, KCNJ5, CACNA1H, and CACNA1D genes have been implicated in the pathogenesis of the fami …
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