Navigation Links
Rare genetic mutations protect against hypertension
Date:4/6/2008

This new study, for the first time, extends the findings from patients with rare Mendelian traits to the general population. The findings suggest that independently rare mutations that alter salt handling by the kidneys collectively account for a substantial fraction of the general population's variability in disease susceptibility, said Lifton.

Lifton noted that there are probably about 100 million people worldwide who carry the mutations and are thus protected from hypertension. The mutations we have identified have clinically meaningful effects to individual patients and suggest that independently rare mutations will collectively account for a substantial fraction of the population's variability in disease susceptibility, he said.

The researchers started by examining variations in three genes known to cause rare recessive diseases characterized by large reductions in blood pressure. The analysis was conducted on salt handling genes isolated from people involved in the Framingham Heart Study (FHS), which is directed by Daniel Levy of the National Heart, Lung and Blood Institute. Levy is a co-author of the Nature Genetics report. Co-first authors Weizhen Ji and Jia Ni Foo are at Yale University School of Medicine.

Lifton's team zeroed in on the three salt-regulating genes -- NCCT, NKCC2 and ROMK -- which his group had previously linked to rare but serious human diseases, including Gitelman and Bartter syndromes. Both are conditions characterized by inherited low blood pressure caused by recessive mutations, where two defective copies of a gene are at play.

Salt handing is an essential function of the kidneys. Our kidneys process more than three pounds of salt per day, and genetic mutations that raise or lower the ability of the organ to absorb and process salt can manifest themselves in higher or lower blood pressure.

Lifton's group has searched worldwide for patients with very high or very low blood pressure due to
'/>"/>

Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. Answer to troublesome question of why some genetic assoc. studies have failed replication attempts
2. Peter J. McGuire, MB BCh, is awarded the 2008-2009 Genzyme/ACMGF Clinical Genetics Fellowship
3. Genetic Engineering & Biotechnology News reports on cancer biomarkers
4. Michigan Tech researchers link 11 genetic variations to type 2 diabetes
5. Major collaboration uncovers surprising new genetic clues to diabetes
6. Major international collaboration offers new clues to genetics of type 2 diabetes
7. Need for federal protection against genetic discrimination
8. Deadly genetic disease prevented before birth in zebrafish
9. Plant Physiology and TAIR partnership will provide genetic information to public database
10. Epigenetic changes discovered in major psychosis
11. A common genetic mechanism discovered in nitrogen-fixing plants
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/30/2014)... KONG , Sept. 30, 2014 Winners of ... Economist Events, Innovation Summit scheduled to take place at the JW ... the summit, the award winners will share their experiences and the ... who have made a proven innovation over the past decade, will ... the night before the summit. It will be the first ...
(Date:9/29/2014)... September 29, 2014 -- Plants have a ... help the pants extract nutrients and defend against ... from contaminating fruits and vegetables. Now, scientist have ... inside of seeds; thus ensuring that sprouting plants ... the University of Notre Dame, presented their findings ...
(Date:9/29/2014)... Food and Brand Lab pilot study, published in ... National School Lunch Program (NSLP) by 9% and overall ... Move to Schools (CMTS), an initiative of Michelle Obama,s ... to provide nutrition instruction to students and culinary advice ... event was held in an Upstate New York high ...
Breaking Biology News(10 mins):Hear from The Economist's 2014 Innovation Award Winners at Innovation Summit on October 10th in Hong Kong 2Hear from The Economist's 2014 Innovation Award Winners at Innovation Summit on October 10th in Hong Kong 3Hear from The Economist's 2014 Innovation Award Winners at Innovation Summit on October 10th in Hong Kong 4Hear from The Economist's 2014 Innovation Award Winners at Innovation Summit on October 10th in Hong Kong 5Hear from The Economist's 2014 Innovation Award Winners at Innovation Summit on October 10th in Hong Kong 6Hear from The Economist's 2014 Innovation Award Winners at Innovation Summit on October 10th in Hong Kong 7Plants prepackage beneficial microbes in their seeds 2Chefs move to schools can increase school meal participation and vegetable intake among students 2
... At a recent Kavli Futures Symposium, 19 experts from ... the lab to understand and exploit the evolution of organisms ... or other biotechnology products. Now, three of the participants ... raised during the meeting: Michael Brenner, Professor of Applied Mathematics ...
... Tampa, Fla. (June 28, 2011) Mensenchymal stem cells ... tissues, have been shown to be therapeutically effective in ... assisting in skin wound healing, and suppressing chronic airway ... are being prepared for therapeutic applications, they are cultured ...
... device to reduce the risk of infection, clotting and narrowing ... because of kidney failure. The device, designed to be ... a technician easy access to the patient,s bloodstream and could ... of a dialysis procedure. The prototype has not yet ...
Cached Biology News:Beyond Darwin: Evolving new functions 2Serum-free cultures help transplanted MSCs improve efficacy 2Student team invents device to cut dialysis risk 2
(Date:10/1/2014)... As the world takes its first steps ... that this century would mark the beginning of a new ... science. The fact that the world is experiencing a rapid ... scientific community. Almost half of these chronic conditions are due ... with medical care and intervention. While the world is experiencing ...
(Date:10/1/2014)... (PRWEB) September 30, 2014 Today ... initial round of grants for the Brain Research ... that aims to develop and revolutionize new methods ... of the human brain. This first round of ... year 2014 was allocated to more than 100 ...
(Date:10/1/2014)... 2014 New applications of structures and ... evolved in nature over millennia are featured in a ... for applications in biophotonics in the October issue of ... is published by SPIE, the international society for optics ... the peer-reviewed articles are accessible via open access. , ...
(Date:10/1/2014)... Slone Partners , a national recruitment ... Laboratory Testing industries, reported a 120% increase in placements ... and above from July 2013 to July 2014. ... rapid breakthroughs in diagnostics, reimbursement has failed to keep ... forced to fold, consolidate, or carry on without payment ...
Breaking Biology Technology:Fighting Mortality and Morbidity of Chronic Health Disorders during Open Access Week 2Fighting Mortality and Morbidity of Chronic Health Disorders during Open Access Week 3NIH Awards 15 Grants to CHI Members for BRAIN Initiative Research 2NIH Awards 15 Grants to CHI Members for BRAIN Initiative Research 3Biomimetic and bioinspired materials enable new healthcare options, reports Journal of Biomedical Optics 2Biomimetic and bioinspired materials enable new healthcare options, reports Journal of Biomedical Optics 3Slone Partners Meets Growing Demand as Industry Focuses on Reimbursement & Regulation 2
... DIEGO, Aug. 4 Cadence Pharmaceuticals,Inc. (Nasdaq: ... and commercializing proprietary product candidates principally,for use in ... and CEO Theodore Schroeder will present the company,s ... -- Bank of America,s 2008 Specialty Pharmaceuticals Conference ...
... Revenue Increases 76% from Same Prior Year Period, ... SUPG ), a pharmaceutical company dedicated to ... solid tumors and,hematological malignancies, today announced financial results ... 30, 2008., Total revenues for the 2008 ...
... 4 Joseph F. Finn, Jr.,C.P.A. ("Finn") announced today ... to him on July 28, 2008 for the benefit ... a common law,procedure, wherein Finn will liquidate the assets, ... sealed bid auction on October 10, 2008., Persons ...
Cached Biology Technology:Cadence Pharmaceuticals' CEO Theodore Schroeder to Present at Two Investment Conferences During the Month of August 2008 2SuperGen Reports 2008 Second Quarter Financial Results 2SuperGen Reports 2008 Second Quarter Financial Results 3SuperGen Reports 2008 Second Quarter Financial Results 4SuperGen Reports 2008 Second Quarter Financial Results 5SuperGen Reports 2008 Second Quarter Financial Results 6SuperGen Reports 2008 Second Quarter Financial Results 7SuperGen Reports 2008 Second Quarter Financial Results 8SuperGen Reports 2008 Second Quarter Financial Results 9SuperGen Reports 2008 Second Quarter Financial Results 10SuperGen Reports 2008 Second Quarter Financial Results 11SuperGen Reports 2008 Second Quarter Financial Results 12SuperGen Reports 2008 Second Quarter Financial Results 13
This Universal 24" X 18" (61 X 45.7cm.) shaker platforms will accept any Thermo Forma shaker flask clip....
Spaced cover glasses to promote effective hybridization...
Antibodies were affinity purified using epitopes specific to RFC1 immobilized on solid support....
...
Biology Products: