A Novel Channelopathy in Pulmonary Arterial Hypertension

In a family with pulmonary arterial hypertension, whole-exome sequencing led to identification of a mutation in the potassium-channel gene KCNK3 . Additional mutations resulting in loss of function of the channel were found in other families and in patients with idiopathic disease. Pulmonary arteria...

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Vydáno v:	The New England journal of medicine Ročník 369; číslo 4; s. 351 - 361
Hlavní autoři:	Ma, Lijiang, Roman-Campos, Danilo, Austin, Eric D, Eyries, Mélanie, Sampson, Kevin S, Soubrier, Florent, Germain, Marine, Trégouët, David-Alexandre, Borczuk, Alain, Rosenzweig, Erika Berman, Girerd, Barbara, Montani, David, Humbert, Marc, Loyd, James E, Kass, Robert S, Chung, Wendy K
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Waltham, MA Massachusetts Medical Society 25.07.2013
Témata:	Amino Acid Sequence Biological and medical sciences Bone morphogenetic protein receptor type II Calcium channels (voltage-gated) Channelopathies - drug therapy Channelopathies - genetics Channelopathy Chlorobenzoates - therapeutic use Cinnamates - therapeutic use Drug therapy Exome Familial Primary Pulmonary Hypertension Female General aspects Genes Genetic Predisposition to Disease Heterozygote Humans Hypertension Hypertension, Pulmonary - drug therapy Hypertension, Pulmonary - genetics Lung - pathology Male Medical sciences Missense mutation Molecular Sequence Data Mutation Mutation, Missense Nerve Tissue Proteins - chemistry Nerve Tissue Proteins - genetics Nerve Tissue Proteins - physiology ortho-Aminobenzoates - therapeutic use Pedigree Phospholipase Pneumology Potassium channels Potassium Channels, Tandem Pore Domain - chemistry Potassium Channels, Tandem Pore Domain - genetics Potassium Channels, Tandem Pore Domain - physiology Proteins Pulmonary hypertension Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases Sequence Analysis, DNA New York United States > US Medicine Respiratory disease Blood vessel Cardiovascular disease Circulatory system Artery Pulmonary hypertension
ISSN:	0028-4793, 1533-4406, 1533-4406
On-line přístup:	Získat plný text
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Shrnutí:	In a family with pulmonary arterial hypertension, whole-exome sequencing led to identification of a mutation in the potassium-channel gene KCNK3 . Additional mutations resulting in loss of function of the channel were found in other families and in patients with idiopathic disease. Pulmonary arterial hypertension is a rare disease that is characterized by increased pulmonary-artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. 1 Before the advent of novel therapies, patients with idiopathic or familial pulmonary arterial hypertension had an estimated median survival of 2.8 years, with 1-year, 3-year, and 5-year survival rates of 68%, 48%, and 34%, respectively. 2 However, despite progress in treatment, pulmonary arterial hypertension remains a progressive, fatal disease. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course. The cause of pulmonary . . .
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	0028-4793 1533-4406 1533-4406
DOI:	10.1056/NEJMoa1211097