Corporate Banner
Satellite Banner
Immunology
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Clues to Autoimmune Conditions are Revealed by Genomic Analysis of a Skin Disease

Published: Monday, September 30, 2013
Last Updated: Monday, September 30, 2013
Bookmark and Share
UB researchers’ findings about Pemphigus vulgaris reveal a novel protective mechanism in at-risk individuals who remain healthy.

Researchers studying a rare, blistering skin condition have made a novel discovery:  they have identified a protective mechanism among genetically susceptible individuals who nevertheless remain healthy. The research is providing new clues to why some individuals who carry genetic risk factors for developing autoimmune diseases, do not go on to develop them.

The paper was published in late August in Genes and Immunity, a Nature Publishing Group journal, by researchers at the University at Buffalo’s ’s Clinical and Translational Research Center. The study of the skin condition Pemphigus vulgaris (PV), is the first genome-wide transcriptional analysis of the disease, which allows for a comprehensive survey of disease-related genes.

“Our findings introduce a potentially paradigm-shifting concept of how autoimmunity in general might be kept at bay in genetically susceptible individuals,” explains Animesh A. Sinha, MD, PhD, Rita M. and Ralph T. Behling Professor and Chair of Dermatology in the UB School of Medicine and Biomedical Sciences and lead author on the paper.

PV is an autoimmune skin disorder that results in the often painful blistering of the skin and mucous membranes. Generally treated with corticosteroids and other immunosuppressive agents, the condition is life-threatening if untreated.

According to Sinha, PV is an excellent model for the study of organ-specific human autoimmune disease.

The research, which was initiated at Weill Medical College of Cornell University/New York Hospital and completed at UB, involved the microarray screening of more than 54,000 genes in the blood of 13 patients with active PV, 8 patients in remission and 10 healthy controls. A subset of controls expressed proteins  in their blood previously identified by Sinha to be PV risk factors, but they exhibited no autoimmune symptoms.

Sinha described the goals of the study. “We wanted to establish genetic signatures relevant to the disease in order to define new molecular markers for diagnosis and prognosis, highlight biological pathways involved in the development of the disease, discover novel targets for therapy and try to pinpoint disease susceptibility genes,” he explains.

“It turns out that healthy individuals with a genetic risk factor for developing PV but who are symptom-free, have down-regulated expression of a set of genes in their blood that we found is up-regulated in patients with PV,” he explains.

“This suggests a ‘protection signature’ in healthy individuals carrying these genetic risk elements,” he says.

“We believe that this is the first time that such a protection signature has been identified for any autoimmune condition,” says Sinha. “Eventually, we might be able to leverage information contained within this ‘natural response’ of the immune system against autoimmunity in order to develop entirely new strategies to block disease.

“With this knowledge, it may be possible to identify genes and immune pathways that can be manipulated in patients and at-risk individuals to prevent, or even reverse, the development of autoimmunity,” he concludes.

The research also may make possible the development of more individually-tailored treatments in an era of personalized medicine, he adds.

Co-authors with Sinha are Rama Dey-Rao,PhD, post-doctoral associate and Kristina Seiffert-Sinha, MD, research assistant professor, both of the UB Department of Dermatology.

The research was funded by the Colleck Research Fund, UB’s Behling Dermatology Fund and UB.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

A Hybrid Vehicle That Delivers DNA
University at Buffalo researchers are developing new technology to improve DNA vaccines. The new transport system for DNA vaccines could help treat HIV, malaria, HPV and other major illnesses.
Thursday, November 27, 2014
Scientific News
Childhood Cancer Cells Drain Immune System’s Batteries
Cancer cells in neuroblastoma contain a molecule that breaks down a key energy source for the body’s immune cells, leaving them too physically drained to fight the disease.
Researchers Discover Immune System’s 'Trojan Horse'
Oxford University researchers have found that human cells use viruses as Trojan horses, transporting a messenger that encourages the immune system to fight the very virus that carries it.
Researchers Discover New Type of Mycovirus
Virus infects the fungus Aspergillus fumigatus, which can cause the human disease aspergillosis.
How to Become a Follicular T Helper Cell
Uncovering the signals that govern the fate of T helper cells is a big step toward improved vaccine design.
Sorting Through Cellular Statistics
Aaron Dinner, professor in chemistry, and his graduate student Herman Gudjonson are trying to read the manual of life, DNA, as part of the Dinner group’s research into bioinformatics—the application of statistics to biological research.
Women’s Immune System Genes Operate Differently from Men’s
A new technology reveals that immune system genes switch on and off differently in women and men, and the source of that variation is not primarily in the DNA.
Experimental MERS Vaccine Shows Promise in Animal Studies
A two-step regimen of experimental vaccines against Middle East respiratory syndrome (MERS) prompted immune responses in mice and rhesus macaques, report National Institutes of Health scientists who designed the vaccines.
HIV Susceptibility Linked to Little-Understood Immune Cell Class
High levels of diversity among immune cells called natural killer cells may strongly predispose people to infection by HIV, and may be driven by prior viral exposures, according to a new study.
New Weapon in the Fight Against Blood Cancer
This strategy, which uses patients’ own immune cells, genetically engineered to target tumors, has shown significant success against multiple myeloma, a cancer of the plasma cells that is largely incurable.
Scientists Create CRISPR/Cas9 Knock-In Mutations in Human T Cells
In a project spearheaded by investigators at UC San Francisco, scientists have devised a new strategy to precisely modify human T cells using the genome-editing system known as CRISPR/Cas9.
SELECTBIO

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!