Navigation Links
Rare Mutation Causes Early Heart Disease and Metabolic Syndrome

Yale School of Medicine researchers have identified a rare defect in a single gene that poses a substantial risk for metabolic syndrome and early heart disease, the leading// cause of death worldwide.

The international study, led by Arya Mani, M.D., assistant professor of cardiology, and Richard Lifton, M.D., chair of genetics at Yale, identifies a new pathway implicated in heart disease. Even though the genetic mutation is very rare, these findings point to new approaches for improving this aspect of health.

“These findings indicate that altered activity of a well-known signaling pathway, Wnt, has large effects on multiple metabolic pathways that contribute to cardiovascular disease,” said Mani.

Coronary artery disease (CAD) is commonly caused by metabolic syndrome, which includes a constellation of risk factors such as high low-density lipoprotein (LDL) cholesterol, high triglycerides, low high-density lipoprotein (HDL) cholesterol, hypertension and diabetes.

This study was based on a large family of Iranian ancestry that had an extraordinary prevalence of early CAD. Among 58 blood relatives, 28 were diagnosed with early CAD at or before age 50 for the men, and 55 for the women. Twenty-three of the 28 died from CAD at young ages. In contrast, relatives without early CAD died at an average age of 81. The relatives with CAD had high LDL, high triglycerides, hypertension, and diabetes, while their unaffected relatives did not. The relatives with CAD also were predisposed to osteoporosis, which is particularly interesting given recent evidence of association of osteoporosis with CAD.

By comparing the inheritance of CAD to the inheritance of each chromosome segment in the pedigree, the team narrowed the location of the disease-causing gene to a short segment of chromosome 12. In this region, they found a single mutation in a gene called LRP6, which acts in the Wnt signaling pathway and which was previously kno
'"/>




Page: 1 2

Related medicine news :

1. Mutation connected to Osteoporosis
2. Stem Cells Have Few Mutations
3. Gene Mutation Causes Ovarian Failure
4. Mutations in NOTCH1 cause an early developmental defect in the aortic valve
5. A Word Of Caution: Routine Screening For Breast Cancer Mutation Not Advisdable
6. Coffee Reduces Risk of Breast Cancer in BRCA1 Mutation Carriers
7. CCR5 Mutation Confers Immunity Against HIV But Not Against West Nile Virus Illness
8. Wound Healing Accelerated By Mutation In Deafness Gene
9. No Mutation Of Bird Flu Virus: WHO
10. Gene Mutation May Influence Age at Onset of Parkinsons Disease
11. Menin Gene Mutation made Insulin Secreting Cells to Proliferate
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Rare Mutation Causes Early Heart Disease and Metabolic Syndrome

(Date:12/25/2014)... December 26, 2014 The microscopy ... of 7.2% to reach $5,756.0 million by 2019. ... microscopy market. The electron microscopes product segment is ... forecast period. , Rising focus on nanotechnology, technological ... of the microscopy market. , Get Full Copy ...
(Date:12/25/2014)... The report “Nintedanib (Colorectal Cancer) ... on the current treatment landscape, unmet needs, current ... market. Stivarga is a drug which is used ... Boehringer Ingelheim is developing nintedanib (BIBF-1120), an orally ... CRC in the US, Europe, and Japan. The ...
(Date:12/25/2014)... months the trends for evening dresses shift and ... of the hottest styles in the next few months.” The ... 26 A-line sweetheart evening dresses, and announces the availability of ... trying our best to help a lady to show off ... prices, we provide discounted delivery costs to our customers worldwide. ...
(Date:12/25/2014)... Angeles, CA (PRWEB) December 25, 2014 The ... Dolcemaschio was created in honor of a true 9/11 ... at two film festivals including the 24 hours of Nuremberg ... Festival in Bangladesh. , Actress, screenwriter and director ... helped produce this film together with her husband, Gregory ...
(Date:12/25/2014)... (PRWEB) December 25, 2014 Helen Harris’ ... in Woodland Hills, California after an 8 year battle ... on Christmas Eve evening in her home in Woodland ... metastatic breast cancer. , As the ... forty years, she pioneered and championed many of today's ...
Breaking Medicine News(10 mins):Health News:Microscopy Market Hit to $5,756.0 Million by 2019 - New Research Report by MarketsandMarkets 2Health News:Microscopy Market Hit to $5,756.0 Million by 2019 - New Research Report by MarketsandMarkets 3Health News:Microscopy Market Hit to $5,756.0 Million by 2019 - New Research Report by MarketsandMarkets 4Health News:Nintedanib Colorectal Cancer Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 2Health News:Nintedanib Colorectal Cancer Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 3Health News:Nintedanib Colorectal Cancer Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 4Health News:The True 9/11 Hero Story “Color of Honor” Premieres in Germany and Bangladesh: Luciana Lagana Plays the Mother of the Lead and Co-Produces with Blaise Dolcemaschio. 2Health News:The True 9/11 Hero Story “Color of Honor” Premieres in Germany and Bangladesh: Luciana Lagana Plays the Mother of the Lead and Co-Produces with Blaise Dolcemaschio. 3Health News:RP International founder, Helen Harris Dies on Christmas Eve Just Hours Before Her Holiday Television Broadcast to Raise Funds to Cure Blindness was Broadcasted Nationally 2Health News:RP International founder, Helen Harris Dies on Christmas Eve Just Hours Before Her Holiday Television Broadcast to Raise Funds to Cure Blindness was Broadcasted Nationally 3Health News:RP International founder, Helen Harris Dies on Christmas Eve Just Hours Before Her Holiday Television Broadcast to Raise Funds to Cure Blindness was Broadcasted Nationally 4
... , THURSDAY, Dec. 1 (HealthDay News) -- Posting ... processing plants on the Internet so it can be viewed ... report released Wednesday. The report is from the National ... advice on challenges facing the United States and the world. ...
... in the levels of two proteins involved in folding, ... destructive brain plaque found in Alzheimer,s disease, researchers report. ... specific positions to unleash their functions. When levels are ... normally dormant BACE1, a protein responsible for beta amyloid ...
... MD, a fourth-year resident in clinical and anatomic ... the highly coveted Resident Leadership Representative Award from ... demonstrating leadership and promoting ASCP membership and resident ... team led by Dr. Martin Kroll, won the ...
... (EGCG)a flavonoid found in green teainhibits the hepatitis C ... in the December issue of Hepatology , a ... Association for the Study of Liver Diseases, suggest that ... reinfection following liver transplantation. HCV infection can ...
... on chromosomes in human cervical cancer cells disrupts DNA ... and kills them more quickly, according to a study ... to like see their laboratory findings published in ... safer, more effective combination therapies for hard-to-treat pediatric brain ...
... December 1, 2011 -- Only 21 percent of surveyed medical ... when and when not to wash their hands in the ... issue of the American Journal of Infection Control , ... in Infection Control and Epidemiology. Three researchers from ...
Cached Medicine News:Health News:Diametric shift in 2 protein levels spurs Alzheimer's plaque accumulation 2Health News:Green tea flavonoid may prevent reinfection with hepatitis C virus following liver transplantation 2Health News:Cancer cells' DNA repair disrupted to increase radiation sensitivity 2Health News:Cancer cells' DNA repair disrupted to increase radiation sensitivity 3Health News:2 out of 3 medical students do not know when to wash their hands 2
(Date:12/24/2014)... 2014  Lockton Dunning Benefits, the ... the addition of Vice President Kim Foerster ... Pharmacy Consulting team, Excelsior Solutions. ... to the position.  Most recently, she worked as ... Specialty Pharmacy, where she has held various managerial ...
(Date:12/24/2014)... , Dec. 23, 2014  Medical Science Liaisons play ... key link between the medical device industry and key ... in the coming years as the device industry relies ... According to research by benchmarking firm, Best Practices, LLC, ... an important edge is by harnessing new technology to ...
(Date:12/22/2014)...   TRU-D SmartUVC LLC, producers of the ... today that the General Services Administration has awarded the ... This newly formed agreement will allow TRU-D ... purchasers, including Department of Veteran Affairs and Department of ... purchasing solutions for the Ebola effort in ...
Breaking Medicine Technology:Kim Foerster Joins Lockton Companies 2Role of Medical Science Liaisons Evolving in Medical Device Sector 2TRU-D SmartUVC LLC Awarded General Services Administration Contract to Expand Government Customer Base 2
... as New US Sales Manager -- CALIFORNIA, September 14, 2010 ... ... ... var first_result; // Results are keyed by longUrl, so we need to grab the first one. for ...
... NOVATO, Calif., Sept. 14 BioMarin Pharmaceutical Inc. (Nasdaq: ... Corporate and Business Development of BioMarin, will present a company ... York City on Tuesday, September 21, 2010 at 3:30 p.m. ... audio webcast of the conference call via the investor section ...
Cached Medicine Technology:Digitron Appoint Gerry Casillas as New US Sales Manager 2Digitron Appoint Gerry Casillas as New US Sales Manager 3Digitron Appoint Gerry Casillas as New US Sales Manager 4Digitron Appoint Gerry Casillas as New US Sales Manager 5Digitron Appoint Gerry Casillas as New US Sales Manager 6Digitron Appoint Gerry Casillas as New US Sales Manager 7BioMarin to Present at the UBS Global Life Sciences Conference 2
... most other EMR,systems require you ... is the only,electronic patient charting,solution ... orthopaedic,workflow. Created around,five specific criteria ... clinic,OrthoPad allows you to see,more ...
The Tag-It™ Cystic Fibrosis ASR reagents can be used by high complexity CLIA approved laboratories for detection of up to 70 mutations and 6 variants (polymorphisms) in the cystic fibrosis tran...
The Tag-It™ Cystic Fibrosis ASR reagents can be used by high complexity CLIA approved laboratories for detection of up to 70 mutations and 6 variants (polymorphisms) in the cystic fibrosis tran...
... EMS provides service to companies in many different ... and restaurants.There are no hidden charges at EMS ... and service are among the lowest in the ... of services ranging from MasterCard/Visa processing to Debit ...
Medicine Products: