what's the buzz...

what's the buzz...

‘Broken’ heart caused by genetic mutation

Scientists have found that gene mutations that shorten the largest human protein are behind idiopathic dilated cardiomyopathy (DCM), a familial heart disease.
For decades, researchers have sought a genetic explanation for DCM, a weakening and enlargement of the heart that puts million of people at risk of heart failure each year.

Because idiopathic DCM occurs as a familial disorder, researchers have long searched for genetic causes, but for most patients the etiology for their heart disease remained unknown.

Now, new work from the lab of Christine Seidman, a Howard Hughes Investigator and the Thomas W. Smith Professor of Medicine and Genetics at Harvard Medical School and Brigham and Women’s Hospital, and Jonathan Seidman, the Henrietta B. and Frederick H. Bugher Foundation Professor of Genetics at Harvard Medical School, has found that mutations in the gene TTN account for 18 percent of sporadic and 25 percent of familial DCM.

“Until the development of modern DNA sequencing platforms, the enourmous size of the TTN gene prevented a comprehensive analyses – but now we know TTN is a major cause of DCM,” said Christine.

DCM may cause shortness of breath, chest pain, and limited exercise capacity. DCM increases the risk of developing heart failure, for which no cure is available, and the risk of stroke and sudden cardiac death.

Malnutrition 'puts 450m children at risk of stunting'

 About 450 million children will be physically and mentally stunted over the next 15 years unless the world takes action to tackle malnutrition, a report from Save the Children warned Wednesday.

Every hour, 300 children die due to a lack of nutrients in their diet, while those who survive are permanently damaged in a way that impacts on their lives and the economic prospects of their countries, the British charity said.

The problem has become urgent due to volatile food prices, economic uncertainty, climate change and demographic shifts.

"The world has made dramatic progress in reducing child deaths, down from 12 to 7.6 million, but this momentum will stall if we fail to tackle malnutrition," said the charity's chief executive, Justin Forsyth. He urged the British government to lead a push to reduce malnutrition with a world hunger summit later this year, taking advantage of the presence of many world leaders in London for the 2012 Olympic Games in July and August.

"Every hour of every day, 300 children die because of malnutrition, often simply because they don't have access to the basic, nutritious foods that we take for granted in rich countries," Forsyth said.

Sitting on couch for hours ‘not bad for kids who exercise’

 Children can watch TV or play video games for as long as they want, provided they raise their heart rates for an hour each day, a new study has claimed.

The new study, by UK experts, found that it did not matter how long children or adolescents spent being sedentary, their health would not be affected provided they exercised at a moderate or vigorous level for about an hour a day.

The researchers found that the more a child exercised, the more their cardiometabolic risk factors, such as cholesterol levels, blood pressure and waist size, improved.

Tim Olds, from the University of South Australia’s School of Health Sciences, said the study was the first to find sedentary time was less important than the amount of physical activity children participate in daily.