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Hong Kong, Sept 29: Scientists in Japan have identified a gene variant that may be linked to narcolepsy — a condition marked by excessive daytime sleepiness, impaired vision and muscle weakness. It occurs in 1 out of 2,500 individuals in the United States and Europe, but is at least 4 times more frequent in Japanese.

It occurs in 1 out of 2,500 individuals in the United States and Europe, but is at least 4 times more frequent in Japanese.

The researchers analyzed the genomes, or DNA, of 222 narcoleptic Japanese and 389 others who did not have that condition, and one gene variant occurred with significant frequency among those with narcolepsy, they wrote in a paper published in Nature Genetics.

“45 percent of those with narcolepsy had this gene variant compared to 30 percent of those without this condition,” Professor Katsushi Tokunaga of the department of human genetics at the University of Tokyo said in a phone interview.

Identification of this gene variant could pave the way for experts to hunt for a treatment, Tokunaga said.

The gene is located between the genes CPT1B and CHKB, both of which appear to be linked to the disorder. CPT1B controls an enzyme that regulates sleep, while CHKB is linked to the sleep-wake cycle.

The scientists took a further step to examine that same gene variant in 424 Koreans, 785 people of European descent and 184 African Americans.

It occurred with significant frequency among narcoleptic Koreans, but the association was not evident in the Europeans and African Americans.

“We have no idea why this gene variant occurs with such high frequency among (narcoleptic) Japanese and Koreans … it may be selection, or chance,” Tokunaga said.

Indian generic drug company Dr Reddy’s new tablet that can halve the risk of death due to heart attacks and stroke is set to go under clinical trials this week in London.The once-a-day tablet called Red heart pill combines four different medicines - aspirin, a statin to lower cholesterol, and an ACE inhibitor and a thiazide to counter high blood pressure in one tablet.

Seven hundred volunteers have been recruited in six countries for a 12-week pilot trial. If all goes well, the main trial with 5,000 to 7,000 volunteers will begin at the end of next year.

Anthony Rodgers, co-director of the clinical trials unit at the University of Auckland, leader of the project, said it had been a struggle to get the polypill this far.

“The chances of mainstream pharmaceutical industry taking this on are slim,” the Guardian quoted him as saying.

“We spent a few years around about 2000-2002 trying to persuade a number of companies to do this, but got nowhere. Basically, their whole business model is around people paying a few hundred pounds a year for the latest blockbuster drug.

“A pill with established medicines that halved cardiovascular risk and could be available for 20 pounds a year could be seen as a threat,” he added.

“There are particular groups in our community who are not getting the required preventive therapy, both among those at modest cardiovascular risk who are not being evaluated and those at pretty serious risk who have already had a heart attack,” said Professor Simon Thom, from the international centre of circulatory health at Imperial College London, where the UK arm of the trial is taking place and where the first volunteer will begin taking the tablets this week.

The research teams, with the backing in the UK of the Wellcome Trust and the British Heart Foundation, are just a few years away from making the polypill an accessible reality.

Cognitive and social activity in midlife may significantly reduce men’s risk of dementia, says a U.S. study that followed 147 male twin pairs for 28 years.
Among the twins, higher cognitive activity scores predicted a 26 percent reduction in risk for developing dementia first. Twins who developed dementia first had significantly lower total cognitive activity scores than twins who didn’t develop dementia.

The study found that reduced dementia risk was most strongly associated with participation in intermediate novel activities including home and family activities, visiting with friends and relatives, club activities (such as attending parties and playing card games), and home hobbies.

“These activities might be indicative of an enriched environment, which has been shown in animal models to enhance the creation of new brain cells and promote brain repair,” noted study author Michelle C. Carlson, an associate professor in the department of mental health and the Center on Aging and Health at the Johns Hopkins Bloomberg School of Public Health, and colleagues.

Two other categories of cognitive activities — novel and passive receptive — also reduced dementia risk but not to the same degree as intermediate novel activities. Novel activities include reading, studying for courses, and extra work (overtime or other employment), while receptive activities include watching television, listening to radio, going to movies, or seeing theater, art and music shows.

The study was published in the September issue of Alzheimer’s & Dementia.

“This fascinating study provides some of the first relatively strong evidence that cognitive activity, including social interaction, reduces dementia risk,” William Thies, vice president of medical and scientific relations at the Alzheimer’s Association, said in an association news release. “The results extend earlier twin study data that showed the beneficial impact of similar activities on Alzheimer’s and dementia risk in women.”

A growing body of evidence suggests a link between low social activity and increased risk for Alzheimer’s disease, and that mid- and late-life social activity is associated with better mental and physical health.

“Overall, these findings suggest that engaging in activities that incorporate both cognitive and social activity might confer protection against Alzheimer’s and dementia, particularly among those at elevated genetic risk for the disease,” Carlson said. “These results can help inform future preventive interventions, especially because they point to a range of activities that individuals are likely to maintain, because they are rewarding, entertaining and engaging.”

Carlson and her colleagues wrote that their findings “have immediate implications for a generation of male baby boomers approaching retirement. Approximately one third of many individuals’ lives will be spent after retirement. The expansion of the human life span makes it imperative to identify lifestyle opportunities that increase health and ‘add life to years.’”