Navigation Links
Sweeping genetic analysis of rare disease yields common mechanism of hypertension
Date:1/22/2012

Analyzing all the genes of dozens of people suffering from a rare form of hypertension, Yale University researchers have discovered a new mechanism that regulates the blood pressure of all humans.

The findings by an international research team headed by Yale scientists, published online Jan. 22 in the journal Nature, may help explain what goes wrong in the one billion people who suffer from high blood pressure. The study also demonstrates the power of new DNA sequencing methods to find previously unknown disease-causing genes.

The team used a technique called whole exome sequencing an analysis of the makeup of all the genes to study a rare inherited form of hypertension characterized by excess levels of potassium in the blood. They found mutations in either of two genes that caused the disease in affected members of 41 families suffering from the condition.

The two genes interact with one another in a complex that targets other proteins for degradation, and they orchestrate the balance between salt reabsorption and potassium secretion in the kidney.

"These genes were not previously suspected to play a role in blood pressure regulation, but if they are lost, the kidney can't put the brakes on salt reabsorption, resulting in hypertension," said Richard Lifton, Sterling Professor and chair of the Department of Genetics at Yale and senior author of the paper.

The mutations had previously been difficult to find because there were very few affected members in each family, so traditional methods to map the genes' locations had been ineffective.

"The mutations in one gene were almost all new mutations found in affected patients but not their parents, while mutations in the other gene could be either dominant or recessive. The exome sequencing technology was ideally suited to cutting through these complexities," said Lynn Boyden of Yale, the first author of the paper.

The next step is to establish how these new components are involved in regulating sodium reabsorption in the kidney, in hopes of finding new ways intervene in hypertension, a major global health problem.

"We are finding all the individual parts to a complicated machine, and we need to understand how they are all put together to make the machine work," said Lifton, who is also an investigator of the Howard Hughes Medical Institute.
'/>"/>

Contact: Bill Hathaway
william.hathaway@yale.edu
203-432-1322
Yale University
Source:Eurekalert

Related biology news :

1. Sweeping view of prostate cancer genome yields deep insights
2. Oil spill reshapes sweeping new study of oyster reefs -- Virginia to Florida
3. Ambry Genetics Reports Results from Clinical Diagnostic Exome™ Testing of Three Patients
4. The power of flowers: Research sprouts a closer look at sunflower genetics
5. Simpler times: Did an earlier genetic molecule predate DNA and RNA?
6. Scientists refute Greenpeace claim that genetically modified corn caused new insect pest
7. Identifying sloth species at a genetic level
8. Cleveland Clinic researcher discovers genetic cause of thyroid cancer
9. DOE researchers achieve important genetic breakthroughs to help develop cheaper biofuels
10. High genetic diversity in an ancient Hawaiian clone
11. New international Ph.D. program on Dynamics of Gene Regulation, Epigenetics and DNA Damage Response
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/30/2017)... -- Trends, opportunities and forecast in this market to ... AFIS, iris recognition, facial recognition, hand geometry, vein recognition, ... industry (government and law enforcement, commercial and retail, health ... and by region ( North America , ... , and the Rest of the World) ...
(Date:3/24/2017)... The Controller General of Immigration from Maldives Mr. ... have received the prestigious international IAIR Award for the most innovative ... ... Maldives Immigration ... Algeen (small picture on the right) have received the IAIR award for ...
(Date:3/22/2017)... , March 21, 2017   Neurotechnology ... object recognition technologies, today announced the release of ... (SDK), which provides improved facial recognition using up ... on a single computer. The new version uses ... improve accuracy, and it utilizes a Graphing Processing ...
Breaking Biology News(10 mins):
(Date:5/16/2017)... ... May 16, 2017 , ... ... of its new ProxiMeta™ Hi-C metagenomic deconvolution service. ProxiMeta enables researchers to ... high-molecular-weight DNA extraction—speeding research insights at lower cost. , “We’re very excited ...
(Date:5/16/2017)... ... (PRWEB) May 16, 2017 , ... ... Association of Orthopaedic Surgeons (CAOS), long-standing development partners Invibio Biomaterial Solutions, UK, ... spine surgery workshop to help expand knowledge of the implantation of Double ...
(Date:5/15/2017)... ... May 15, 2017 , ... ... Advanced Lift Contouring Cream, a gravity-shattering cream with a patented formula, clinically proven ... to bring the Advanced Lift Contouring Cream to our already innovative ELEVATE product ...
(Date:5/12/2017)... , May 12, 2017  Eli Lilly and Company ... galcanezumab, an investigational treatment for the prevention of ... in three Phase 3 studies (EVOLVE-1, EVOLVE-2 and ... of monthly migraine headache days compared to placebo ... robust results from these three studies bring us ...
Breaking Biology Technology: