New research uncovers Conn’s Syndrome
Scientists at Aarhus University have revealed the mechanism behind Conn’s syndrome, which causes the high blood pressure in one to seven percent of all patients with hypertension. This result has been newly published in Nature Genetics.
![[Translate to English:] Sygdommen opstår ved fejlkodning af en enkelt aminosyre i natrium-kalium-pumpen. Billedet viser det ionbindende område i natrium-kalium-pumpen, hvor mutationen har indsat aminosyren arginin (grå med blå felter), der påvirker placeringen af en anden aminos](/fileadmin/www.biomed.au.dk/Nyheder_2013/Conns_syndrom.jpg "[Translate to English:] Sygdommen opstår ved fejlkodning af en enkelt aminosyre i natrium-kalium-pumpen. Billedet viser det ionbindende område i natrium-kalium-pumpen, hvor mutationen har indsat aminosyren arginin (grå med blå felter), der påvirker p")
Translation: Bente Vilsen
Increased production of the hormone aldosterone in the adrenal cortex, also known as Conn’s syndrome, has for many years been known as the cause of high blood pressure in part of the population. The overproduction is often due to a tumor in the adrenal cortex, however, the underlying mechanism has been poorly understood.
Scientists at Aarhus University have now in collaboration with several other European teams revealed the mechanism behind the overproduction of aldosterone. The result, newly published in the highly esteemed journal Nature Genetics, shows that the explanation is found in the so-called sodium-potassium-pump in the adrenal cortex.
Mutations cause serious disease
The sodium-potassium-pump is present in all cells of the body and is responsible for the salt balance of the body necessary for function of muscle and nerves. This small pump is essential for life, and a mutation in the pump in the adrenal cortex has now been identified as the cause of increased production of aldosterone in 16 of the 308 patients screened in the research project. The mutation changes a single amino acid in the sodium-potassium-pump protein, which is sufficient to disturb the binding of potassium, thereby abolishing pump function.
”The sodium-potassium-pump has several times emerged as the key to answering unsettled medical questions. It has previously been found that mutations in other isoforms of the sodium-potassium-pump cause rare neurological disorders, but for the first time mutations in the so-called alpha-1 isoform have now been shown to cause disease. So the pump continues to cause surprise,” Bente Vilsen explains. She is professor at Aarhus University and has been the leader of the Danish part of the international research team.
The sodium-potassium-pump was originally identified in 1957 by professor at Aarhus University Jens Christian Skou, who in 1997 was awarded the Nobel Prize in Chemistry for his discovery. The sodium-potassium-pump has since the 1950s been studied extensively at Aarhus University.
Facts about the research project
- The project has been carried out by a consortium with participation of scientist from Denmark, Germany, France and Italy.
- The Danish research team consists of professor Bente Vilsen, research assistant Hang N. Nielsen and postdoc Vivien R. Schack.
Facts about Conn’s syndrome
- Is also called primary aldosteronism
- Caused by overproduction of the hormone aldosterone, often by a tumor in the adrenal cortex.
- Characterized by high blood pressure, reduced potassium content of the blood, and muscle weakness.
- Is treated by surgical removal of the adrenal gland containing the tumor.
Read the article
The results have been published in the international journal Nature Genetics in the original article ”Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension”
Further information
Professor Bente Vilsen
Aarhus University, Department of Biomedicin
Direct phone: 8716 7736
Mobile: 2382 2977
bv@fi.au.dk