News in brief - May 5, 2003

Progeria gene found - Newborn screening varies by state - Flu shots do double-duty for seniors - Risk factors prevalent in women who have fatal heart attacks - Snoring and chronic headaches linked - Little-understood receptor may play key role in obesity

Progeria gene found

A team of researchers from the National Human Genome Research Institute announced on April 16 the discovery of the genetic mutations responsible for Hutchinson-Gilford syndrome. The finding is expected to shed new light on the rare disorder that causes dramatic premature aging, as well as on normal human aging.

The syndrome is estimated to affect one in 8 million newborns worldwide. There currently are no diagnostic tests or treatments for the progressive, fatal disorder. Children with progeria usually appear normal at birth. But, within a year, their growth rate slows and their appearance begins to change. Affected children typically become bald with aged-looking skin and pinched noses. They often suffer from symptoms typically seen in elderly people, especially severe cardiovascular disease. Death occurs on average at age 13, usually from a heart attack or stroke.

Newborn screening varies by state

While the number of genetic and metabolic disorders included in state newborn screening programs ranges from four to 36, most states screen for eight or fewer disorders, according to a new General Accounting Office report.

The Dept. of Health and Human Services' Health Resources and Services Administration is developing a set of disorders for which all states should screen and criteria for selecting the disorders, noted the GAO report, which compiled the state screening information for Congress.

In deciding which disorders to include, states generally consider similar criteria, such as whether the disorder is treatable, and the cost of screening for additional disorders. Almost all states provide education on their newborn screening program for parents and physicians, but fewer than one-fourth inform parents of their option to obtain tests for additional disorders not included in the state's program.

Flu shots do double-duty for seniors

A recent study indicates that influenza vaccination for patients older than 65 was associated with reduced rates of hospitalization for cardiac and cerebrovascular disease.

The study, conducted by researchers at the University of Minnesota and the Veterans Affairs Medical Center, both in Minneapolis, tracked medical records for more than 286,000 seniors during the 1998-1999 and 1999-2000 flu seasons.

Among immunized senior citizens, the study found the risk of being hospitalized for heart disease was 19% lower than that for their nonimmunized counterparts, while the risk of being hospitalized for stroke was as much as 23% lower.

Researchers also documented a reduction in hospital stays for flu or pneumonia of as much as 32% in those who had been vaccinated. The study was published in the April 3 New England Journal of Medicine.

Risk factors prevalent in women who have fatal heart attacks

Most women who die because their heart stops abruptly have no history of heart disease but do have a significant number of risk factors, according to a study published in an April issue of Circulation, the Journal of the American Heart Assn.

Researchers analyzed data on more than 100,000 women from the Nurses' Health Study finding that in 69% of those who died suddenly of a heart attack, the incident was the first sign of heart disease. Nearly all -- 94% -- had a factor that put them at higher risk of heart disease. Women who smoked had a fourfold increase in the risk of sudden cardiac death. Diabetes added a threefold increase in risk, and obesity bumped up the risk by 1.6.

"The research tells doctors and patients that sudden cardiac death does happen to women and not just women with heart disease," said Christine M. Albert, MD, MPH, lead author and assistant professor of medicine at Harvard Medical School.

Snoring and chronic headaches linked

People who have more than 15 headaches a month are more than twice as likely to snore as those who do not have regular headaches, according to a paper published in the journal Neurology last month.

Researchers at the National Institute on Aging identified those with chronic headaches from participants in a general health survey conducted in Atlanta, Baltimore and Philadelphia. Those with chronic headaches were more likely to snore even after adjusting for factors which could make snoring more likely, such as alcohol intake or weight.

Study authors said it was unclear which was the cause and which was the effect, but this study suggested a new strategy for treatment.

"If we can show that the snoring is causing the headaches, then we may be able to stop or lessen people's headaches by treating their snoring," said Ann Scher, PhD, lead author and NIA researcher.

Little-understood receptor may play key role in obesity

Peroxisome-proliferator-activated receptor, delta -- PPARd -- may play a significant role in the development of obesity, according to a paper published in last month's Cell.

Researchers at the Salk Institute for Biological Studies in San Diego engineered transgenic mice to overexpress PPARd creating animals that were completely resistant to the deleterious effects of a high-fat diet and obesity. Evan on a normal diet, they also weighed 20% less than normal mice.

Scientists suggest that the receptor may regulate fat-burning and may be a potential target for anti-obesity drugs.

"PPARd activates an array of genes that are required for fatty acid combustion and uncoupling, but does not activate genes that are involved in the formation and storage of fats," said Ronald M. Evans, the March of Dimes chair in Developmental and Molecular Biology at the Institute. "By exploiting PPARd, we hope to design drugs that can control how much fat is stored in the body."