The identification of a pair of unique genes associated with the diagnosis of Conn’s syndrome connects fifty percent of cases of hypertension (high blood pressure) for sufferers of the disease. | Forest Medical – Blood Pressure Monitor Calibration
Conn’s syndrome is a genetic disorder concerned with the overproduction of the hormone “Aldosterone” via a benign tumour found in Conn’s Adenoma adrenal gland, or Hyperplasia Tissue; also known as “Hyperaldosteronism”. The hope is that classification of the correlated genetic dysfunctions will accelerate the development of “Biomarkers”. Which will then facilitate the determination of Conn’s syndrome, a disease which often leads to complicated-drug-resistant high blood pressure.
Excess Aldosterone And Cases Of Critical Hypertension
“Among four and ten percent of hypertensive cases possess first-stage hyperaldosteronism. However, the percentage raises to twenty percent in severe high blood pressure sufferers, including patients with symptoms that are treatment-resistant”. Explained Dr Maria-Christina Zennaro, the lead researcher in recent studies of this challenging malady (hyperaldosteronism). “Therefore, all biomarker detections have signified fantastic progress in our understanding of the disease.”
Researchers examined DNA of benign tumour cells of the adrenal gland responsible for hyperaldosteronism to distinguish distinct genes implicated in the origin of the condition. The team benefited significantly from data supplied by the COMETE group, the most prominent research body studying Conn syndrome, including in-depth prognosis reports from five hundred subjects and the European network of ENS@T’s historical adrenal tumours analysis.
Approximately Fifty Percent Of Incidences Defined By Genetic Characteristics
What the scientists discovered is that two to five percent of patients with Conn Adenoma exhibited two mutated genes which encode proteins required in ion conveyance across the cell; the irregularity then leads to excess production of aldosterone. The first identified gene revealed the reason for forty percent of past cases; which later explained the origin of the disease in almost fifty percent of cases,” Dr. Zennaro further explained.
“This research opens the door for many more studies directed at enhancing the detection and characterisation of cases of hyperaldosteronism. We already know that patients with these mutations are more frequently men, who develop more severe forms, with higher levels of aldosterone and lower plasma potassium levels.”
The result will be improved response to treatment, advanced understanding of the route to identifying new biomarkers to detect hyperaldosteronism in hypertensive patients; and develop, if possible, new drugs to treat this severe form of high blood pressure.” concludes Dr. Zennaro.
Forest Medical – Blood Pressure Monitor Calibration
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Beuschlein et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Nature Genetics, February 14, 2013, Online Edition