Navigation Links
Penn study reveals a common genetic link in fatal autoimmune skin disease
Date:6/19/2014

PHILADELPHIA Autoimmune disease occurs when the body's own natural defense system rebels against itself. One example is pemphigus vulgaris (PV), a blistering skin disease in which autoantibodies attack desmoglein 3 (Dsg3), the protein that binds together skin cells. Left untreated, PV can be fatal, as skin layers slough off and leave the body vulnerable to dehydration and infection. Researchers from the Perelman School of Medicine at the University of Pennsylvania recently found a shared genetic link in the autoimmune response among PV patients that provides important new clues about how autoantibodies in PV originate. Full results of the new study are available today in Nature Communications.

To better understand the nature of the immune response in PV, the researchers cloned anti-Dsg3 monoclonal autoantibodies (mAbs) from four unrelated PV patients. In characterizing the mAbs, they identified a particular gene, VH1-46, that was used by PV antibodies across all four patients.

"This was a very striking finding, because the common gene suggests common mechanisms for developing the disease," said senior author Aimee Payne, MD, PhD, the Albert M. Kligman Assistant Professor of Dermatology at Penn Medicine. "Most people have common antibody gene responses to infections and vaccinations, so when we first started these studies, we suspected this might be the case for PV, we just didn't know which gene it was going to be."

To investigate further, the team set out to determine the nature and frequency of mutations in the complementarity determining regions (CDRs) of the VH1-46 autoantibodies. CDRs are the parts of the antibody that determine its specific antigen target. The researchers found that with very few CDR mutations, or even none at all, VH1-46 mAbs could bind with the Dsg3 protein. This suggests that the inherent tendency of some VH1-46 antibodies to bind Dsg3 could underlie the cascade of events that ultimately lead to PV.

While it's unlikely that the VH1-46 link solves the entire puzzle of PV's origins, it's an important step pointing in the right direction. Payne explains, "We don't think that VH1-46 is everything in PV, because we know that by the time patients show up with full-blown disease, multiple autoantibodies are causing the disease. However, the key is that we find VH1-46 autoantibodies in all of the patients we have studied, which suggests that it may be one of the earliest autoantibodies that appears."

Among the next steps for the research team will be to continue to probe the development of VH1-46 anti-Dsg3 antibodies, specifically whether they cross-react to microbes such as viruses or bacteria. "That could indicate that autoimmunity was mistakenly triggered during the course of an appropriate immune response to infection," says Payne. "Although we don't think this paper is going to immediately affect therapy, we believe that continuing along these lines of study will allow us to better understand how to improve current therapies or develop new strategies to treat disease," she notes. "We're at a really exciting time right now where we have the technologies to be able to address important questions about how PV occurs."


'/>"/>

Contact: Katie Delach
katie.delach@uphs.upenn.edu
215-349-5964
University of Pennsylvania School of Medicine
Source:Eurekalert

Related medicine news :

1. Study Suggests Vaccine May Help Kids With Brain Cancer
2. Study reveals how cancer drug causes diabetic-like state
3. Coffee Drinking in Pregnancy Wont Lead to Sleepless Baby: Study
4. Lower GI problems plague many with rheumatoid arthritis, Mayo Clinic study finds
5. Veggies Like Broccoli, Cabbage May Help Fight Breast Cancer: Study
6. No Added Cancer Risk From Hip Replacement Materials: Study
7. Reported Decline in U.S. Pneumonia Deaths May Be False: Study
8. Early Study Finds Some Promise for Lung Cancer Vaccine
9. Narcissists Often Ace Job Interviews, Study Finds
10. Sexual objectification of female artists in music videos exists regardless of race, MU study finds
11. Soy may alleviate hot flashes in menopause, large-scale study finds
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... (PRWEB) , ... October 13, 2017 , ... Apple ... care services, staged a mock evacuation of the facility as part of a disaster ... Fire Department, Echo Hose EMS and Shelton City Emergency Manager, as well as the ...
(Date:10/13/2017)... , ... October 13, 2017 , ... Global Healthcare Management’s ... Alexandria Park in Milford, NJ. This free event, sponsored by Global Healthcare Management’s ... The fun run is geared towards children of all ages; it is a ...
(Date:10/13/2017)... ... October 13, 2017 , ... “The Journey: From the ... danger possible to save lost souls in the Philippines. “The Journey: From the Mountains ... a dedicated teacher of the Bible. She has taught all ages and currently teaches ...
(Date:10/12/2017)... ... October 12, 2017 , ... Planet Fitness, one of the largest and ... plans to open a flagship location in Covington, LA at 401 N. U.S. Highway ... store next to Office Depot in the Holiday Square shopping center. Its location allows ...
(Date:10/12/2017)... ... 2017 , ... Asante, a nationally recognized health system in ... existing home health joint venture through an agreement, effective October 1, 2017, to ... home health company with Asante, delivering clinically integrated care, for the past eight ...
Breaking Medicine News(10 mins):
(Date:10/10/2017)... -- NDS received FDA 510(k) clearance in May 2017 for its highly ... designed for endoscopy environments. An innovative secondary monitor solution, ZeroWire ... support the improvement of patient outcomes, procedural efficiency, and the lowering ... ... ...
(Date:10/4/2017)... 4, 2017  South Korean-based healthcare product Development Company ... "cprCUBE" on Kickstarter. The device will educate the user ... with better efficiency compared to the dated and pricey ... on efficacy of the compression for a more informed ... goal to raise $5,000. ...
(Date:10/2/2017)... 2017  Eli Lilly and Company (NYSE: ... third quarter of 2017 on Tuesday, October 24, 2017. ... day with the investment community and media to further ... call will begin at 9 a.m. Eastern time. Investors, ... webcast of the conference call through a link that ...
Breaking Medicine Technology: