Corporate Banner
Satellite Banner
Scientific Communities
Become a Member | Sign in
Home>News>This Article

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 2,800+ scientific posters on ePosters
  • More Than 4,000+ 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 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

New Technique for Studying Cellular Interfaces
The method, used to study cells involved in myelination, provides “a glimpse into the social life of cells” and boosts understanding of myelin diseases such as MS and Krabbe’s leukodystrophy.
Monday, September 21, 2015
E. Coli Can Be Transformed into Antibiotic Factories
Scientists have engineered E.coli to generate new varieties one of the most commonly used antibiotics, Erythromycin.
Wednesday, June 03, 2015
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
How ‘Bad’ Cholesterol Causes Atherosclerosis in Humans: Stem cells play a Key Role
Study translates to humans a finding previously shown in lab animals that could lead to new therapy to use with statins or in place of them.
Monday, September 30, 2013
A Protein's Role in Helping Cells Repair DNA Damage
A new study elucidates the role that a protein called TFIIB plays in supporting the activity of p53, a protein that helps suppress tumors.
Tuesday, November 06, 2012
Nanotechnology Identifies Peptide "Fingerprint" in both Forms of ALS
A nanospray emitter developed by University at Buffalo chemist has identified a common molecular signature in familial and sporadic forms of ALS.
Wednesday, September 05, 2007
Engineered Blood Vessels Function like Native Tissue
Researchers says that blood vessels that have been tissue-engineered from bone marrow adult stem cells may serve as a patient's own source of new blood vessels.
Wednesday, July 11, 2007
Scientific News
High Throughput Mass Spectrometry-Based Screening Assay Trends
Dr John Comley provides an insight into HT MS-based screening with a focus on future user requirements and preferences.
Promising Drug Combination for Advanced Prostate Cancer
A new drug combination may be effective in treating men with metastatic prostate cancer. Preliminary results of this new approach are encouraging and have led to an ongoing international study being conducted in 196 hospitals worldwide.
A Cellular Symphony Responsible for Autoimmune Disease
Broad Institute researchers have used a novel approach to increase our understanding of the immune system as a whole.
When it Comes to Breast Cancer, Common Pigeon is No Bird Brain
If pigeons went to medical school and specialized in pathology or radiology, they’d be pretty good at distinguishing digitized microscope slides and mammograms of normal vs. cancerous breast tissue, a new study has found.
Editing of LIMS Data Made Faster and More Efficient in Matrix Gemini
The latest version of the Matrix Gemini LIMS (Laboratory Information Management System) from Autoscribe Informatics now provides faster and more efficient editing of LIMS data by eliminating the need for a second editing screen.
University of Edinburgh, Selcia Achieve Key Milestones in Drug Development Program
Scientists from the University of Edinburgh, working with Selcia, have successfully passed the 20-month milestone targets of a 30-month Wellcome Trust SDDi £2.5 million project to design novel treatments for sleeping sickness.
Red Clover Genome to Help Restore Sustainable Farming
The Genome Analysis Centre (TGAC) in collaboration with IBERS, has sequenced and assembled the DNA of red clover to help breeders improve the beneficial traits of this important forage crop.
How a Genetic Locus Protects Adult Blood-Forming Stem Cells
Mammalian imprinted Gtl2 protects adult hematopoietic stem cells by restricting metabolic activity in the cells' mitochondria.
Genetic Basis of Fatal Flu Side Effect Discovered
A group of people with fatal H1N1 flu died after their viral infections triggered a deadly hyperinflammatory disorder in susceptible individuals with gene mutations linked to the overactive immune response, according to a recent study.
New Tech Vastly Improves CRISPR/Cas9 Accuracy
A new CRISPR/Cas9 technology developed by scientists at UMass Medical School is precise enough to surgically edit DNA at nearly any genomic location, while avoiding potentially harmful off-target changes typically seen in standard CRISPR gene editing techniques.
Scroll Up
Scroll Down
Skyscraper Banner

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
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos