Ten years ago, Stanford University School of Medicine scientist Emmanuel Mignot, MD, PhD, and his colleagues made headlines when they identified the culprit behind the sleep disorder narcolepsy. Now Mignot and his collaborators have shown for the first time that a specific immune cell is involved in the disorder—confirming experts’ long-held suspicion that narcolepsy is an autoimmune disease.

The work, which will be published online May 3 in Nature Genetics, could lead to better treatments for the sleep disorder and help immunologists understand other, more common autoimmune diseases, such as multiple sclerosis and juvenile diabetes.

“We’re now getting the main pieces of what’s happening in narcolepsy,” said Mignot, a Howard Hughes Medical Institute investigator who has been studying the disease for more than two decades. “What’s most satisfying to me is that we’re bringing this story to a close and that we can use narcolepsy as a model for other diseases.”

Narcolepsy affects about one in 2,000 people and is characterized by daytime drowsiness, irregular sleep at night and cataplexy—a sudden loss of muscle tone and strength. Mignot and others showed in the late 1990s that the disease stems from a lack of hypocretin, a hormone that promotes wakefulness; they later showed that narcoleptics are missing brain cells that produce this hormone.

Mignot and others believe that the body’s immune system plays a role in killing hypocretin-making cells, primarily because of scientific literature showing a link between narcolepsy and a variant for the human leukocyte antigen, or HLA, gene. The immune system uses HLAs to differentiate between “self” cells and foreign cells (and attacks those presented as foreign), and most autoimmune diseases are associated with variants of HLA. In recent studies, more than 90 percent of narcolepsy patients were shown to carry one such variant.

“For a long time, people have suspected narcolepsy had something to do with the immune system—that it was killing cells that produce hypocretin,” said Mignot, a professor of psychiatry and behavioral sciences and director of Stanford’s Center for Narcolepsy. “But there hasn’t been direct proof.”

During this study, the researchers ran whole-genome scans—which allow for the analysis of hundreds of thousands of genetic variations—of 1,800 people carrying the same HLA gene variant. Of the group, 800 had narcolepsy, and the goal was to find what differentiated these people from control subjects. The team found that a specific variation of a gene belonging to T cells—specialized immune cells that play a role in all immune responses—was present in narcolepsy.

Because T cells are involved, Mignot believes the mechanism behind narcolepsy stems from the immune system. “Our discovery clearly shows narcolepsy is an autoimmune disease,” he said.

“This is a very important finding,” said Merrill Mitler, PhD, a sleep disorders expert and program director at the National Institute of Neurological Disorders and Stroke, who was not involved in the study. “It puts in place another piece of the puzzle and shows a way to link [this gene variant] to hypocretin-containing neurons via an autoimmune attack.”

Mignot said it’s likely that HLA and this T cell variant interact in a way that kills hypocretin cells. How exactly this interaction is triggered is not yet known, and he said future studies will focus on solving this mystery. Once more details emerge, he said, scientists may be able to identify people who are predisposed to narcolepsy and block specific gene variants in that person to stop the development of the disease.

In the meantime, Mignot expects the findings to aid researchers studying other autoimmune diseases. No other autoimmune disease has shown an association with this specific T cell gene, he noted.

“I’m sure immunologists are going to be very excited,” said Mignot of the findings. “If we can work out what happens specifically in patients with narcolepsy, we’ll be able to better understand the role of T cells in other autoimmune diseases that are more complicated and difficult to detect.”

The American Medical Association reports that females typically put the health care of her spouse and children ahead of their own well-being. This May, in honor of National Women’s Health Care Month, Symmetry is encouraging women to rethink their approach.

“Women need to realize that their health is their single best asset,” said Rudy Revak, president and chief executive officer for Symmetry Corporation. “When stress and other ailments cause women to neglect their bodies, energy, mood, and overall health fall to the wayside as a result.”

Revak says women can experience significant advances in their well-being by taking the following action steps:

• Eat a rainbow – Rich, colorful foods such as berries and green leafy vegetables are rich in antioxidants and other vitamins and nutrients, which all play a role in staving off disease. For women who have trouble squeezing in the recommended five to nine servings of fruit and vegetables a day, Revak suggests incorporating supplements that feature extracts of whole foods.
• Go fish – Fatty fish such as salmon, mackerel and herring are high in Omega-3s, essential fatty acids that have been shown to reduce the risk of heart disease. Women should aim for two three-oz. servings of fish a week. However, those who aren’t fond of seafood may prefer to take a high-quality Omega-3 supplement, typically available in pill form.
• Get moving – Although typically associated with weight loss, regular physical activity can strengthen the immune system and reduce the occurrence of diseases that affect the bones and joints. Even moderate movement, such as brisk walking, can produce positive results. Women should aim for 30 minutes of activity a day.
• Stay strong with calcium – Weight-bearing exercise can help improve bone density, but aging women can take additional measures against osteoporosis by monitoring their calcium intake. In addition, calcium has been shown to support colon health, reduce tension and even moderate the symptoms of PMS. When choosing a calcium supplement, women should look for varieties that include Magnesium and Vitamin D.

A nationwide survey of health care executives released today by Identity Force indicates that approximately 80 percent of hospitals are still not in compliance with federal Red Flags Rules that require businesses and organizations to create identity theft prevention programs. The Federal Trade Commission has set May 1, 2009 as the enforcement deadline for the new regulations. The survey also found that 63.3 percent of facilities have data breaches each year, with 18.8 percent reporting 10 or more breaches annually.

Health care companies are among creditors and financial institutions that must comply with federal regulations designed to prevent identity theft, which claimed 8.3 million U.S. victims last year, according to the Federal Trade Commission. Approximately 11 million companies must comply with the Red Flags Rules, according to SC Magazine. Non-compliance puts facilities at risk for regulatory action, including fines of up to $11,000 per day. The facilities with the highest risk will include those that suffer data breaches.

“It is evident that hospitals are struggling to comply with Red Flags Rules. Medical identity theft and data breaches are increasing, yet compliance efforts are woefully behind schedule,” said Steven Bearak, CEO of Identity Force, the top provider of identity theft solutions to the federal government. According to Bearak, the state of non‐compliance is due either to the fact that compliance with the standards set forth by Red Flags Rules to protect patients from identity theft is not a high priority, or it is too complex a task for mid‐ to large‐sized hospitals to satisfy internally.

Key Findings in Identity Force’s “Red Flags Rules: Hospital Compliance Report”

• Only 17.5 percent of hospitals reported that they were in compliance with Red Flags Rules.
• Of the 82.5 percent not yet in compliance, 52.7 percent indicated that they were working towards compliance, and 24.3 percent said that they were still evaluating options.
• Questions remain about the completeness of Red Flags Rules programs, even at facilities that are in compliance or “in the final stages.”
• 63.3 percent of hospitals reported that they experience at least one data breach yearly, and 18.8 percent reported that they experience 10 or more data breaches annually.
• The findings indicate that data breaches may be under‐reported by hospitals, which also brings into question the level of compliance with data breach notification laws that are in place in 44 states.

The online survey was conducted with hospital executives between March 24 and 30, 2009, just four weeks before the Red Flags Rules enforcement deadline of May 1. Seventy-four hospitals from thirty‐four states participated in the study. Respondents included Chief Privacy Officers, Chief Financial Officers, Chief Information Security Officers, Chief Information Officers, Compliance Officers and their director‐level equivalents.

The Red Flags Rules, developed as part of the Fair and Accurate Credit Transactions (FACT) Act of 2003, require organizations to devise written programs to spot warning signs of identity theft, take steps to prevent it and to reduce the damage that results. The prevention programs allow businesses and organizations to recognize suspicious patterns and act before they become identity theft incidents. Effective programs also help businesses avoid absorbing unpaid balances that will never be recovered.