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Largest human gene linked to cases of heart disease

20 February 2012

By Dr Sarah Spain

Appeared in BioNews 645

A mutation in the largest human gene causes 25 percent of a type of inherited heart disease, according to scientists in the USA. The information could be incorporated into current genetic tests to provide early diagnosis and clinical intervention.

The condition, known as familial dilated cardiomyopathy (DCM), causes the heart to become enlarged, losing the ability to pump blood efficiently, and can lead to heart failure by middle age.

Study co-leader Dr Jonathan Seidman of Harvard Medical School explained that the gene, called TTN, has been implicated in the disease before, but due to its large size it has been very difficult to sequence and analyse.

The TTN gene produces a protein called titin that acts as a scaffold for assembling contractile proteins in muscle cells and regulates the production of contractile force in heart muscle cells.

The study, published in the New England Journal of Medicine, screened the entire sequence of the TTN gene in 312 people with dilated cardiomyopathy, 231 with another form of heart disease and 249 without heart disease. This identified 72 mutations in the TTN gene, resulting in a shorter version of titin, which lacked regions important for regulating contraction in cardiac muscle cells.

'Early diagnosis of any disease, including DCM, can allow interventions that may prevent some of the devastating outcomes, such as sudden cardiac death from an arrhythmia or development of heart failure', said study co-leader Dr Christine Seidman of Brigham and Women's Hospital. 'By knowing that TTN mutations account for a substantial amount of idiopathic DCM, we now will have the opportunity for early diagnosis in lots of at-risk individuals, and any person who has a family member with idiopathic DCM'.

Dr Jonathan Seidman added that half of the DCM patients had a first degree relative with a TTN mutation and of these 95 percent had some sign of heart disease by age 40.

Dr Gordon Tomaselli, president of the American Heart Association and chief of cardiology at Johns Hopkins Medicine in Baltimore, said that the study is important for both researchers and patients. Currently, genetic tests are available that screen for the other known causes of cardiomyopathy. According to Dr Tomaselli we could expect to see TTN testing being added to current genetic screens within months.

Daily RX | 15 February 2012
Health Canal | 16 February 2012
HealthDay News | 15 February 2012
New England Journal of Medicine | 16 February 2012


28 November 2016 - by Dr Özge Özkaya 
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06 January 2014 - by Dr Louisa Petchey 
The same genetic variant that makes some people more prone to stress has been shown to increase the risk of having and dying from a heart attack...
11 February 2013 - by Nina Chohan 
A mutation in the gene for lipoprotein(a), a type of cholesterol, is linked to aortic valve disease, according to a large international study...
11 June 2012 - by Dr Rebecca Hill 
A previously unidentified type of stem cell, usually dormant in blood vessels, is at the heart of vascular disease, according to researchers...

13 February 2012 - by Dr Zara Mahmoud 
A sixth of men have a genetic variant which could increase their risk of heart disease by up to 56 percent, according to a recent study...
05 December 2011 - by Dr Louisa Petchey 
Research in mice has shown the heart contains its own renewable source of stem cells which can differentiate into a variety of cell types. The research team in Australia hopes that one day the stem cells could be activated so a broken heart can be made to mend itself....
28 November 2011 - by Dr Sophie Pryor 
Mouse fetal stem cells can travel from the placenta to heal their mother's damaged heart, US scientists have found. The discovery may explain why some women who suffer heart failure during or shortly after pregnancy recover faster, and offers hope for new treatment methods using human fetal stem cells...

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