Hypertension or high blood pressure is a major health problem affecting hundreds of millions across the globe. Hypertension is a major risk factor for cardiovascular diseases and stroke. Some of the common causes of hypertension include high salt intake, lack of physical activity, and unhealthy lifestyle habits, such as drinking, smoking, and poor diet. This is called primary hypertension, whereas high blood pressure due to some underlying disease or medications is called secondary hypertension. Familial hyperaldosteronism is the most common cause of secondary hypertension, accounting for 5-12% of hypertensive patients.
Familial hyperaldosteronism is a genetic condition in which the adrenal glands produce excessive amounts of the aldosterone hormone. Familial hyperaldosteronism type II (FH-II) is characterized by hypertension, and unlike other types of FH, Type II cannot be treated with steroid medications.
Current diagnostic methods detecting FH-II results in late diagnosis. In this technology, a mutation associated with FH-II is identified. This biological marker in the genome can be tested to accurately diagnose FH-II at an early stage. Therefore, it allows the early diagnosis and timely intervention for this clinical condition.
In this technology, the lineages of eight kindreds were analyzed using DNA sequencing. A genetic mutation associated with hypertension, which is the chloride channel encoding gene CNCL2, is identified. This genetic biomarker enables timely detection of hyperaldosteronism, as well as assess for the risk of inheriting the disease. This molecular or genetic diagnostic test is ready to be demonstrated and licensed.
Diagnosis of chloride channel encoding gene (CLCN2) can facilitate early and accurate diagnosis and assessment of the risk of familial hyperaldosteronism. This is useful for patients suffering from hyperaldosteronism in childhood and adolescence, helping them make appropriate lifestyle changes. This technology can also be used to develop novel therapies targeting the mutated chloride channel ClC-2 for treatment of this rare genetic disease, hyperaldosteronism.
Through early diagnosis of familial hyperaldosteronism, this molecular diagnostic test enables better disease management and treatment.
The currently available diagnostic methods for detection of familial hyperaldosteronism often diagnose the condition late. Familial hyperaldosteronism patients with severe hypertension are likely to develop cardiovascular conditions. Late diagnosis of familial hyperaldosteronism damages the heart and circulatory system, leading to cardiovascular events. With this molecular diagnostic test, such unwanted cardiac events can be averted. Timely intervention can improve clinical outcomes. This test assesses the risk of inheriting hyperaldosteronism, supporting patients through timely and adequate treatment.