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 wn to be involved in development and in certain forms of cancer. The mutation changed one amino acid in the protein, which the team showed altered the activity of the protein encoded by LRP6.

“The reason for the observed association of multiple risk factors with one another has been a mystery,” Lifton said. “Our findings have implicated the Wnt signaling pathway in the development of many risk factors and early CAD. We expect that studies of the Wnt signaling pathway in patients with early CAD, and metabolic syndrome, will provide new insight into the basic biology of disease causation and allow new approaches to disease prevention.”

Source-YALE UniversitySRM

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:

(Date:11/26/2015)... ... ... Indosoft Inc., developer and distributor of the world-class Asterisk based contact center software ... , The new Q-Suite 6 platform is based on the latest Java Enterprise standards. ... specific piece of software for many key components of the suite. Much of the ...
(Date:11/25/2015)... ... November 25, 2015 , ... Additional breast ... found on mammography, according to a study published online in the journal Radiology. ... on mammography may necessitate a change in treatment. , Breast MRI is the ...
(Date:11/25/2015)... ... 2015 , ... As part of a global movement to ... together who want to combine talents and resources to help create sustainable communities ... The non-profit launched its first major fundraiser on November 6, 2015 at Bent ...
(Date:11/25/2015)... ... November 25, 2015 , ... The holiday season is jam-packed ... the palates of attendees is of the utmost importance. Whether you are cooking ... give these recipes a try this holiday season. , Turkey Croquettes , ...
(Date:11/25/2015)... ... November 25, 2015 , ... Finnleo, a leader in the ... several models of traditional and far-infrared saunas. , For traditional saunas, Finnleo ... most traditional Finnish sauna wood, and Finnleo uses only European Grade A Nordic White ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... , November 26, 2015 ... of the "Radioimmunoassay Market by Type ... Pharmaceutical Industry, Academics, Clinical Diagnostic Labs), Application ... Forecast to 2020" report to their ... announced the addition of the "Radioimmunoassay ...
(Date:11/26/2015)... , November 26, 2015 ... the addition of the  "2016 Future ... European Cell Surface Marker Testing Market: ...  report to their offering.  --> ... addition of the  "2016 Future Horizons ...
(Date:11/25/2015)... , Nov. 25, 2015 ... the addition of the "Global Brain ... their offering. --> ) ... "Global Brain Monitoring Devices Market 2015-2019" ... Research and Markets ( ) has ...
Breaking Medicine Technology: