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| Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK |
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| Author(s): Simon DB, Karet FE, RodriguezSoriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP |
| Source: NATURE GENETICS Volume: 14 Issue: 2 Pages: 152-156 Published: OCT 1996 |
| Times Cited: 415 References: 16 |
| Abstract: Mutations in the Na-K-2Cl cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic alkalosis, hypercalciuria and low blood pressure. NKCC2 mutations can be excluded in some Bartter's kindreds, prompting examination of regulators of cotransporter activity. One regulator is believed to be ROMK, an ATP-sensitive K+ channel that 'recycles' reabsorbed K+ back to the tubule lumen, Examination of the ROMK gene reveals mutations that co-segregate with the disease and disrupt ROMK function in four Bartter's kindreds. Our findings establish the genetic heterogeneity of Bartter's syndrome, and demonstrate the physiologic role of ROMK in vivo. |
| Document Type: Article |
| Language: English |
Addresses:
1. YALE UNIV, SCH MED, BOYER CTR MOL MED, HOWARD HUGHES MED INST, DEPT MED, NEW HAVEN, CT 06510 USA
2. YALE UNIV, SCH MED, BOYER CTR MOL MED, HOWARD HUGHES MED INST, DEPT GENET, NEW HAVEN, CT 06510 USA
3. HOSP CRUCES, DEPT PEDIAT, E-48903 BARACALDO, SPAIN
4. DHARAN HLTH CTR, SPECIALTY PEDIAT SERV DIV, DHAHRAN 31311, SAUDI ARABIA
5. SCHNEIDER CHILDRENS HOSP, ALBERT EINSTEIN COLL MED, DEPT PEDIAT, I-80131 NAPLES, ITALY
6. KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: VL446 |
| ISSN: 1061-4036 |
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