HOME >> BIOLOGY >> NEWS
Rare mutation causes early heart disease and metabolic syndrome

New Haven, Conn.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 previousl
'"/>

Contact: Jacqueline Weaver
jacqueline.weaver@yale.edu
203-432-8555
Yale University
1-Mar-2007


Page: 1 2

Related biology news :

1. New gene mutation identified in common type of dementia
2. Researchers identify genetic mutation that may alter tumor cell proliferation
3. p53 gene mutations and inflammation trigger skin cancer
4. Muscle weakness: New mutation identified
5. Researchers discover inherited mutation for leukemia
6. Gene mutation linked to cognition is found only in humans
7. Gene mutation linked to increased athletic performance in whippets
8. Researchers learn more about genetic mutation linked to autism
9. Researchers find gene mutation that causes infertility in male mice
10. Gene mutations linked to hereditary lung disease
11. Jefferson scientists uncover gene mutation that cuts colon polyps, may suppress cancer

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/2/2019)... ... January 31, 2019 , ... Pharmica Consulting announced ... operations executives and focusing on all facets of clinical trial planning and management. ... management, resource management, patient engagement, and more. , “We have attended the ...
(Date:2/2/2019)... , ... February 01, 2019 , ... ... Accreditation for Clinical Testing Laboratories by A2LA, which establishes requirements for medical laboratories ... standard. The laboratory is already CLIA-licensed as well as College of American Pathologists ...
(Date:1/25/2019)... ... January 24, 2019 , ... GrowthZone, Inc., ... Survey. The report indicates membership growth in some sectors and decreasing membership among ... received responses from over 500 association professionals across North America. , “This ...
Breaking Biology News(10 mins):
(Date:1/20/2019)... ... 17, 2019 , ... Consumers are directing healthcare in many ... That's changing as many services now exist for patients to order tests without ... $208 million in 2018, according to Kalorama Information’s new report, The Direct-To-Consumer ...
(Date:1/15/2019)... BROOK, Ill. (PRWEB) , ... January 15, 2019 , ... ... risk factors for worsening kidney disease, according to a new study published in the ... stage and are frequently treated with partial nephrectomy, a surgical procedure in which the ...
(Date:1/10/2019)... ... ... a local shelter when he was around two years old. According to his mom, ... was adopted, he tore his right cruciate ligament. Though he had his ACL surgically ... injury. , Sure enough, when Rascal was about nine years old, he began showing symptoms ...
(Date:1/8/2019)... ... 2019 , ... The American Society of Gene and Cell Therapy’s ... committee made up of industry leaders identified by the ASGCT board of directors. In ... created to support ASGCT members designing transformative pilot studies in gene and cell therapy ...
Breaking Biology Technology:
Cached News: