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June 26, 2009
NIH Podcast Episode #0087
Balintfy: Welcome to the 87th episode of NIH Research Radio with news about the ongoing medical research at the National Institutes of Health—the nation's medical research agency. I'm your host Joe Balintfy. Coming up in this episode, a couple reports related to childhood obesity: one shows a link between obesity and allergies; another is on a program to help fight childhood obesity. Also, we’ll hear about sarcoidosis, an inflammatory disorder with an unknown cause, and no cure. But first: how scientists have discovered a new genetic immune disorder in children. That's next on NIH Research Radio.
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Scientists Discover New Genetic Immune Disorder in Children
Balintfy: Your immune system plays an important function in your health — it protects you against viruses, bacteria, and other toxins that can cause disease. However, in autoinflammatory diseases, the immune system goes awry, causing unprovoked and dangerous inflammation. Now, researchers have discovered a new autoinflammatory syndrome, a rare genetic condition that affects children around the time of birth.
Goldbach-Mansky: Autoinflammatory and autoimmune diseases are both disease a rheumatologist treats, and they are both diseases caused by a disregulation of the immune system.
Balintfy: Dr. Raphaela Goldbach-Mansky, a researcher at the National Institute of Arthritis and Musculoskeletal and Skin Diseases, writes in a recent issue of the New England Journal of Medicine about a newly discovered autoinflammatory syndrome.
Goldbach-Mansky: We identified a novel disease that occurs in children at the time they are born, and is life-threatening, particularly in the early months of life.
Balintfy: She explains that the immune system has two arms. One is innate: we are born with it, and it doesn’t change much. The other is adaptive: it’s acquired, and gets fine-tuned as we live.
Goldbach-Mansky: Autoimmune diseases are actually caused by diseases in the adaptive immune system, the one that needs to be fine-tuned as we grow up, and also many of those develop later in life when we are older. A number of the auto-inflammatory diseases are caused by genetic mutation in the innate—in the inherited form, or hardwired form, of the immune system, the innate immune system—and many children actually present very early in life with such disorders.
Balintfy: Children with the newly discovered disorder display several serious and potentially fatal symptoms. They include swelling of bone and connective tissue; bone pain and deformity; and a rash that can cover most of the patient’s body.
Goldbach-Mansky: The disease is caused by a genetic mutation in one of the innate immune system genes that actually lead to the fact that this protein is not expressed. . . We call the diseases DIRA—deficiency of the IL-1 receptor antagonist. . . And the protein, IL-1 receptor antagonist—it has a very long name—is actually a break in the immune system.
Balintfy: The disorder is rare. Scientists have identified nine patients from six families with DIRA in the Canadian province of Newfoundland, the Netherlands, Lebanon, and Puerto Rico. Dr. Goldbach-Mansky points out that now genetic testing for the disease can be developed.
Goldbach-Mansky: And in populations where we have seen those children, and particularly in Puerto Rico where the disease might actually be in certain areas quite frequent, could be identified before the children are born; and in addition there is very effective treatment available to those children.
Balintfy: Dr. Goldbach-Mansky says blocking the IL-1 pathway with anakinra, a drug that is normally used for rheumatoid arthritis, is very effective.
Goldbach-Mansky: It has to be given by daily injection, but there are other longer-acting IL-1 blocking agents that are being developed that might be effective, and I am in fact interested in testing one of such agents in those patients.
Balintfy: Although the mutation that causes DIRA is rare, as many as 2.5 percent of the population of northwest Puerto Rico are carriers. Since DIRA is recessively inherited, these data suggest that it may be present in about 1 in 6,300 births in this population. Dr. Goldbach-Mansky says that because the mutation was found in three independent Dutch families, newborn screening for DIRA in this population, as well as that of northwest Puerto Rico, may be warranted. For more information on DIRA and this study, visit www.niams.nih.gov.
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New Data Analysis Shows Possible Link between Childhood Obesity and Allergies
Balintfy: We’ll have more from Dr. Goldbach-Mansky in our next episode; be sure to tune in then. Now we start with a couple stories about childhood obesity. First, a study published in the May issue of the Journal of Allergy and Clinical Immunology shows that obese children and adolescents are at increased risk of having some kind of allergy, especially to a food. Dr. Darryl Zeldin is a senior investigator and acting clinical director at the National Institute of Environmental Health Sciences. He explains that researchers analyzed data from more than four-thousand children and young adults age 2 to19. Zeldin: In short what we found was that being obese or overweight was associated with increased risk of allergy.
Balintfy: Dr. Zeldin adds that while the results from this study are interesting, the association does not prove that obesity causes allergies.
Zeldin: We simply can say that the two are associated. That if you’re obese you’re more likely to have allergies, if you’re not obese, you’re less likely to have allergies, but we can’t say that obesity causes allergies.
Balintfy: The study is the first to be published using a new national dataset designed to obtain information about allergies and asthma.
Zeldin: The data is from a cross sectional study, and what that means is that we take a snapshot of the U.S. population at a single point of time. So because we don’t know whether the timing of the exposure is before or after the health outcome, in this case allergy, we can’t really determine causality.
Balintfy: The data is from the National Health and Nutrition Examination Survey, called NHANES [EN-Hanes] that is conducted every year by the Centers for Disease Control and Prevention’s National Center for Health Statistics.
Zeldin: The strength of large national surveys like NHANES are that they allow one to look at associations and then set the stage for subsequent more detailed studies that can address the issue of causality. Right now in the literature, the medical literature, there is controversy as to whether there is a relationship between obesity and allergy. Some studies that have been published suggest there is a relationship, other studies that have been published suggest there isn’t; they’re all small studies. But what the NHANES study adds to the puzzle, if you will, is it’s a large study, it’s nationally representative, and it clearly shows a relationship. That relationship can now be tested to look to see whether, for example intervening to reduce overweight, might reduce the prevalence of allergy in the population.
Balintfy: Dr. Zeldin emphasizes that being obese or overweight, is associated with increased risk of food allergy.
Zeldin: And that’s important because food allergy is not uncommon in children and obesity is not uncommon in children. And given that both of these problems, food allergy and obesity, appear to be increasing in the population, studying these issues and their relationship is important.
Balintfy: For more information on this study, visit www.niehs.nih.gov.
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We Can! Partners
Balintfy: In this next report, we hear how research is involved with outreach. The We Can! program is reaching out to families with tips and tools to help children and their parents maintain a healthy weight and prevent overweight and obesity. Ms. Karen Donato is from the National Heart, Lung, and Blood Institute and is coordinator of the program.
Donoto: We Can stands for Ways to Enhance Children’s Activity and Nutrition. It’s a national education program that aims to empower parents, families, and communities to help children maintain a healthy weight.
Balintfy: At a rally in Washington DC, hundreds of elementary and middle school students heard boxing champion Laila Ali explain her goal to help children avoid the physical hardships of obesity.
Ali: You know I feel that it’s very important that people like myself come and promote a program such as We Can! Because we have this big problem with childhood obesity in the United States and I can’t stand seeing kids walking around with ailments that they shouldn’t have as young adults. And I know there’s a lot of parents that feel like they just don’t know what to do. So they can log on to wecan.org get the information, get involved and there shouldn’t be anymore excuses. That’s why we’re here today, to make sure they have all the information they need to better their life.
Balintfy: We Can! materials have been adapted into fun tools and activities for teachers, students and parents. For more information about We Can! visit www.wecan.org. And coming up after this break, researching the mysteries of sarcoidosis.
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Sarcoidosis
Balintfy: Sarcoidosis is a multi-systemic inflammatory disorder of unknown cause, and has no cure. Sarcoidosis affects people of all ages and races; however, it's more common among women than men, and among African Americans and those of Asian, German, Irish, Puerto Rican and Scandinavian origin. Belle Warring brings us this report on what we do know about sarcoidosis, and where research is going.
Waring: Sarcoidosis is an inflammatory disease that produces small grainy lumps called granulomas.
Reynolds: A granuloma is microscopic, but they get large – they get a cluster – and they’re a kind of a rounded density.
Waring: Dr. Herbert Reynolds at the National Heart, Lung, and Blood Institute explains that sarcoidosis usually starts in the lungs, skin, or lymph nodes.
Reynolds: And in fact it can involve just about every organ in the body.
Waring: The lymph nodes are part of your immune system. They fight germs or a foreign particle you may have breathed in. At that point, inflammation—heat, redness and swelling—can occur; and once the harmful substance is destroyed, the inflammation normally goes away. But in sarcoidosis, the inflammation remains, granulomas are formed and the tissues can get scarred.
Reynolds: Eventually, it can be so extensive that it distorts the cell tissue
Waring: The granulomas may clear up on their own, but if they don’t, they can cause problems, including shortness of breath and cough, or other symptoms like fever, fatigue, arthritis and a red, bumpy rash.
Reynolds: It can involve multiple organs and does so in a fairly large percentage of people although about 90, almost 100 percent of the people, at some point in the illness, have the lungs involved.
Waring: Dr. Reynolds stresses that people can have sarcoidosis without knowing it.
Reynolds: Because sarcoidosis is an under-diagnosed disease. It’s been well-substantiated that we don’t find all the cases.
Waring: Sarcoidosis affects people of all ages and races.
Reynolds: There are more women have the disease than men, although both can.
Waring: African American women in particular may be older when they are first diagnosed with sarcoidosis.
Reynolds: It’s been missed and therefore they’re more likely to have chronic disease and so they don’t get treatment and attention early on. So it’s clearly a disease that we need to pick up on and diagnose sooner.
Waring: Dr. Reynolds says it’s important to have regular physical exams, including eye exams. He adds that sarcoidosis can disappear without any treatment; but, if the disease affects certain organs, such as your eyes, heart, or brain, you'll need treatment even if you don't have symptoms. The National Heart, Lung, and Blood Institute is very active in sarcoidosis research. Again Dr. Reynolds:
Reynolds: A very significant thing that the NIH-NHLBI sponsored was something called the ACCESS Study. The ACCESS study was an attempt to look at people with sarcoidosis who had very well-defined disease and look at it particularly in terms of the cause of it… And the NIH then sponsored another study in family members that was an offshoot of this ACCESS study that’s called the SAGA, S-A-G-A.
Waring: There is no cure, but most patients with sarcoidosis can expect to live normal and active lives. If you have been diagnosed with sarcoidosis, you can ask your doctor about becoming a volunteer in an NIH Clinical Trial. To find out more, visit the website clinicaltrials.gov or www.nhlbi.nih.gov. This is Belle Waring, National Institutes of Health, Bethesda, Maryland.
Balintfy: That’s it for this episode of NIH Research Radio. Please join us again on Friday, July 10th when our next edition will be available for download. I'm your host, Joe Balintfy. Thanks for listening.
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NIH Research Radio is a presentation of the NIH Radio News Service, part of the News Media Branch, Office of Communications and Public Liaison in the Office of the Director at the National Institutes of Health in Bethesda, Maryland, an agency of the US Department of Health and Human Services.
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