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| Hauptseite > Publikationsdatenbank > CLCN2 chloride channel mutations in familial hyperaldosteronism type II > print |
| Hauptseite > Publikationsdatenbank > CLCN2 chloride channel mutations in familial hyperaldosteronism type II > print |
| 001 | 843588 | ||
| 005 | 20210129232557.0 | ||
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| 100 | 1 | _ | |a Scholl, Ute I. |0 0000-0002-0309-8045 |b 0 |e Corresponding author |
| 245 | _ | _ | |a CLCN2 chloride channel mutations in familial hyperaldosteronism type II |
| 260 | _ | _ | |a New York, NY |c 2018 |b Nature America |
| 336 | 7 | _ | |a article |2 DRIVER |
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| 520 | _ | _ | |a Primary aldosteronism, a common cause of severe hypertension1, features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II)2 and 80 additional probands with unsolved early-onset primary aldosteronism. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with early-onset primary aldosteronism carried the CLCN2 variant found in the proband. CLCN2 encodes a voltage-gated chloride channel expressed in adrenal glomerulosa that opens at hyperpolarized membrane potentials. Channel opening depolarizes glomerulosa cells and induces expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis. Mutant channels show gain of function, with higher open probabilities at the glomerulosa resting potential. These findings for the first time demonstrate a role of anion channels in glomerulosa membrane potential determination, aldosterone production and hypertension. They establish the cause of a substantial fraction of early-onset primary aldosteronism. |
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