General Health

General health issues, Medical conditions, Research and studies and more

Mental Health

Natural Medicine

Nutritional supplements, Herbs, Alternative medicine and more…

Wellness & Lifestyle

Nutrition, Diets, Healthy living, Detox, Exercise and Physical Fitness, Sports Fitness and more…

Women’s Health

Relationships, Pregnancy, Birth control, Menopause and more

Home » Information, News

Clues to Congenital Heart DiseaseClues to Congenital Heart Disease

Article / Review by on May 20, 2013 – 8:24 pmNo Comments

Clues to Congenital Heart Disease

A large-scale genomic analysis found that non-inherited mutations in hundreds of genes together account for about 1 in 10 cases of severe congenital heart defects. The findings bring us closer to understanding the most common type of birth defect.

Clues to Congenital Heart Disease

Congenital heart defects are problems with the heart’s structure that are present at birth. They range from simple defects with no symptoms to complex flaws with severe, life-threatening symptoms. These defects affect 8 out of every 1,000 newborns. More than a million adults nationwide are living with congenital heart disease.

An international, multicenter collaborative research team performed genomic analyses to gain insights into the causes of congenital heart defects. The effort was supported largely by NIH’s National Heart, Lung and Blood Institute (NHLBI). The team used state-of-the-art sequencing and genome-mapping techniques to focus on the exome—the complete set of protein-coding regions in the genome. While the exome represents only about 1.5% of the genome, past studies have found that it harbors most disease-causing mutations.

The researchers analyzed 362 parent-offspring trios, each of which included a child with congenital heart disease and his or her healthy parents. A group of 264 healthy parent-offspring trios served as controls for comparison. The results appeared online in Nature on May 12, 2013.

The scientists found that about 10% of the participant cases were associated with spontaneous (or de novo) mutations, which arise during fetal development. Based on their results, the investigators were able to estimate that there may be several hundred genes in which de novomutations could contribute to congenital heart disease.

Many of the genes with spontaneous mutations are involved in the biological pathway for a type of epigenetic modification called histone 3 lysine 4 (H3K4) methylation. Epigenetic modifications are changes to DNA that affect gene expression without altering the genetic sequence itself. Targeted sequencing of these genes in larger groups of patients may reveal more about the role of these mutations.

“These findings provide new insight into the causes of this common congenital disease,” says Dr. Richard Lifton of the Yale School of Medicine, a senior author of the paper. “Most interestingly, the set of genes mutated in congenital heart disease unexpectedly overlapped with genes and pathways mutated in autism. These findings suggest there may be common pathways that underlie a wide range of common congenital diseases.”

While this study identified many genes involved in congenital heart disease, the findings still don’t resolve the causes of most cases. Other genes and molecular pathways that cause congenital heart disease remain to be discovered.

By Harrison Wein, Ph.D.

###

*  The above story is reprinted from materials provided by National Institutes of Health (NIH)
** The National Institutes of Health (NIH) , a part of the U.S. Department of Health and Human Services, is the nation’s medical research agency—making important discoveries that improve health and save lives. The National Institutes of Health is made up of 27 different components called Institutes and Centers. Each has its own specific research agenda. All but three of these components receive their funding directly from Congress, and administrate their own budgets.

More about National Institutes of Health (NIH)

Tags: , , ,

Leave a comment!

Add your comment below, or trackback from your own site. You can also subscribe to these comments via RSS.

Be nice. Keep it clean. Stay on topic. No spam.

You can use these tags:
<a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>

Notify me of followup comments via e-mail. You can also subscribe without commenting.