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

Join For Free

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 3,300+ scientific posters on ePosters
  • More than 4,900+ 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
Shedding Light on HIV Vaccine Design
Broadly speaking - Mathematical modelling of host-pathogen coevolution sheds light on HIV vaccine design.
Progress In Vaccination Against Vespid Venom
Researchers at the Helmholtz Zentrum München and the Technical University Munich have presented a method which facilitates a personalised procedure for wasp allergy sufferers.
New Drug Target for Inflammatory Disorders
Penn study finds enigmatic molecules maintain equilibrium between fighting infection and inflammatory havoc.
Oxygen Can Impair Cancer Immunotherapy
Researchers have identified a mechanism within the lungs where anticancer immune resposnse is inhibited.
LncRNAs Maintain Immune Health
Long non-coding RNAs are key controllers for maintaining immune health when fighting infection or preventing inflammatory disorders.
Researchers Identify Influenza Fighting Molecule
St. Jude scientists have identified the molecule that recognizes influenza virus cells and triggers their death to fight the infection.
Breast Milk Sugar May Protect Babies Against Deadly Infection
Researchers from Imperial College London find that a sugar found in some women’s breast milk may protect babies against Group B streptococcus.
New Method of Cancer Immunotherapy
Stanford chemists have dicovered a new form of cancer immunotherapy using sugar presence manipulation.
Immune Breakthrough: Unscratching Poison Ivy’s Rash
Researchers from Monash University have discovered the molecular cause of poison ivy rash.
Alien-Like Reproduction of Single-Celled Fungi
Biologists have directly observed how microspridia, a single-celled fungi, replicate and spread.
Skyscraper Banner

SELECTBIO Market Reports
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
3,300+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,900+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!