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CLINICAL RESEARCH

 

 
"Skin Condition Vitiligo Tied to Immune System Dysfunction"
 
Genetic Discoveries Hold Clues to Vitiligo and Malignant Melanoma
 
     
     
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Research Report:

Loyola University Medical Center
Dr. Le Poole Begins New Vitiligo Study

At Loyola University Chicago, we are trying to find out what triggers vitiligo. We know that there are hereditary factors involved. We also know that in patients with generalized vitiligo, it can be considered an autoimmune disease. What remains poorly understood is why vitiligo develops when it does. You can go for years without any white spots, and suddenly the loss of pigment sets in. Frequently, patients have told us they had either come back from a sunny vacation, or they had cut or wounded their skin in an accident, or they had been exposed to certain chemicals in the workplace prior to developing white skin patches. Others will tell us that a particularly traumatic event took place before their vitiligo developed (loss of a job, loss of a loved one).

We are trying to understand how stressful conditions can lead to a loss of skin pigmentation. In collaboration with Dr. Boissy™s lab in Cincinnati, we have focused primarily on a chemical known to cause vitiligo in individuals who are sensitive to this compound. This bleaching phenol called 4-tertiary butyl phenol (4-TBP) was already known to suppress pigment formation. At higher concentrations, it can kill pigment cells as well. We found that when pigment cells are exposed to 4-TBP, they defend themselves by making what we call stress proteins™. These stress proteins, besides protecting the cells livelihood, can also tell the body that there is something wrong™. When cells release stress proteins (for example when the cell dies), the stress proteins can activate an immune response.

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Researchers discover 'vitiligo gene', paving the way for new treatments

22.03.2007

In a study appearing in the March 22 edition of The New England Journal of Medicine, researchers at St George’s, University of London, the University of Colorado at Denver and Health Sciences Center (UCDHSC) and the Barbara Davis Center for Childhood Diabetes have discovered a connection between a gene and the chronic skin condition vitiligo, as well as a possible link to an array of other autoimmune diseases.

Supported by grants from the National Institutes of Health and funding from the Vitiligo Society (UK) and the National Vitiligo Foundation (USA), the study analysed two independent groups of families enrolled between 1996 and 2005. Samples were obtained from a total of 656 Caucasian individuals from 114 extended families with vitiligo and other epidemiologically associated autoimmune and autoinflammatory diseases from the United States and the United Kingdom.

The researchers began with a study of vitiligo, a distressing condition causing loss of pigment resulting in irregular pale patches of skin, which is visibly detectable in the 0.5% to 1% of people affected by it. The researchers found that persons with vitiligo also have a risk of developing other autoimmune diseases, as do their close relatives, even those without vitiligo. By searching the genome, the researchers discovered that NALP1 – a gene that controls part of the immune system that serves to alert the body to viral and bacterial attacks – was a key gene involved in predisposing to vitiligo and all the other autoimmune diseases that ran in these families.

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