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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Gordon Syndrome: a continuing story.

Kevin M O'Shaughnessy1

  • 1Division of Experimental Medicine and Immunotherapeutics, Department of Medicine, Addenbrooke's Hospital-University of Cambridge, Cambridge, CB2 2QQ UK. kmo22@medschl.cam.ac.uk.

Pediatric Nephrology (Berlin, Germany)
|December 16, 2014
PubMed
Summary

Gordon Syndrome, a rare hypertension disorder, involves hyperkalemia due to thiazide-sensitive Na/Cl cotransporter (NCC) overactivation. Genetic mutations in WNK kinases and novel genes like CUL3 and KLHL3 reveal complex regulatory pathways.

Keywords:
Cation-chloride cotransportersDistal nephronFamilial hypertension with hyperkalaemiaHyperkalaemiaKinasesMonogenic hypertension syndromesPseudohypoaldosteronism type 2

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Area of Science:

  • Nephrology
  • Endocrinology
  • Genetics

Background:

  • Gordon Syndrome (GS) is a rare genetic hypertension characterized by hyperkalemia, distinguishing it from other hypertensive syndromes.
  • GS patients exhibit sensitivity to salt restriction and thiazide diuretics, implicating the distal nephron's thiazide-sensitive Na/Cl cotransporter (NCC).

Purpose of the Study:

  • To elucidate the complex molecular mechanisms underlying Gordon Syndrome and NCC regulation in the distal nephron.
  • To identify the genetic basis and signaling pathways involved in GS pathogenesis.

Main Methods:

  • Genetic analysis to identify mutations in WNK1, WNK4, CUL3, and KLHL3 genes.
  • Investigation of kinase cascades involving SPAK and OSR1 in NCC phosphorylation.
  • Examination of ROMK channel regulation by WNK kinases.

Main Results:

  • Mutations in WNK1 and WNK4 were initially identified as causes of GS.
  • WNK kinases, acting with SPAK/OSR1, phosphorylate and activate NCC, NKCC1, and NKCC2.
  • WNK1/WNK4 also reduce ROMK channel expression, leading to hyperkalemia.
  • CUL3 and KLHL3 mutations affect WNK kinase ubiquitination and degradation, adding complexity to NCC regulation.

Conclusions:

  • Gordon Syndrome pathogenesis involves intricate regulation of NCC and ROMK channels in the distal nephron.
  • The WNK-SPAK/OSR1 pathway is crucial for NCC activation, while WNKs also control potassium secretion.
  • CUL3 and KLHL3 represent new genetic factors influencing WNK kinase stability and GS development.