CLCN2 mutation analysis – Molecular diagnostic of familial hyperaldosteronism type II
More than a billion people worldwide suffer from high blood pressure, which is largely caused by lifestyle habits such as lack of physical exercise, obesity, diet, salt intake and alcohol consumption. Besides that genetic factors play an important role in hypertension. Hyperaldosteronism is supposed to be the most common reason for secondary hypertension accounting for 5 to 12 percent of patients with high blood pressure.
Researchers of the Heinrich Heine University of Düsseldorf together with colleagues from the United States and Australia have identified mutations in the chloride channel encoding gene CNCL2 as a new hyper-tension disease gene. Pedigrees of eight kindreds were analyzed by Sanger sequencing, and mutations were identified as indicated in the figure.
The molecular diagnosis of CLCN2 facilitates better timely and adequate treatment of affected persons with hyperaldosteronism, especially of patients suffering from hyperaldosteronism in childhood and adolescence, and furthermore applies to disease risk assessment. In addition, this technology may give rise to novel therapy options for hyperaldosteronism targeting the mutated chloride channel ClC-2.
The invention is offered for licensing.
- First diagnostic option for patients with familial hyperaldosteronism type II
- Timely and adequate treatment possible
- Provides risk assessment in reproductive medicine
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Scholl, U. I., et al. (2018) CLCN2 chloride channel mutations in familial hyperaldo-steronism type II. Nature Genetics doi: 10.1038/s41588-018-0048-5.