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(Hypertension. 2005;46:263.)
© 2005 American Heart Association, Inc.

Editorial Commentaries

With-No-Lysine Kinases

The Discovery of a New Pathway in Hypertension Using Human Genetic Studies

Céline Delaloy; Juliette Hadchouel; Xavier Jeunemaitre

From the Collège de France, INSERM U36, Assistance-Publique-Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges, Pompidou, Faculty of Medicine Paris-Descartes, Paris, France.

Correspondence to Dr X. Jeunemaitre, INSERM U36, College de France 11, place Marcelin Berthelot 75005 Paris, France. E-mail xavier.jeunemaitre@college-de-france.fr

An extract of the first 250 words of the full text is provided, because this article has no abstract.

Arterial hypertension is a complex trait caused by many environmental and genetic factors playing together and in interaction. This complexity has limited the identification of susceptibility genes for this major cardiovascular risk factor to controversial loci and candidate genes.¹ Conversely, search for major genes implicated in rare Mendelian forms of the disease has been particularly successful. Up to now, the genes identified correspond to products already known or suspected to play a role in blood pressure regulation. Examples include the CYP11B1 and CYP11B2 genes in glucocorticoid remediable aldosteronism, in which the role of genes involved in the synthesis of aldosterone could be expected. This is also the case of the genes encoding the subunits of the epithelial Na channel that was suspected to be responsible for Liddle’s syndrome, based on the excessive salt retention causing the disease, and on the knowledge of the molecular structure of the channel. The discovery of particular mutations affecting the proline-rich consensus motif in the C terminus of the ß- and -subunits led to further exciting research on the regulation of the channel and on proteins, hormones, and local factors influencing sodium and potassium excretion in the distal tubule but did not lead to discovery of new genes primarily involved in human hypertension. However, the discovery of hypertension caused by mutations of the WNK kinases initiated by Lifton’s group and ours resulted in the identification of completely unsuspected genes.²

Familial hyperkalemic hypertension (FHHt) syndrome, also referred to as Gordon’s syndrome or pseudohypoaldosteronism type 2 (PHA2), . . . [Full Text of this Article]

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