A New Model for Junctional Epidermolysis Bullosa (Sundberg 1+Ext)Completed
|Project lead||Dr John Paul Sundberg|
|Organisation||The Jackson Laboratory, Main, USA|
|Project budget||GBP 206,187.00 + USD 34,000.00 (Extension funded by DEBRA Austria)|
|Start date / Duration||01. Jan 2007 / 40 months|
|Funder(s) / Co-Funder(s)||DEBRA UK, DEBRA Austria, MSAP/EBEP Recommended|
|Research area||Molecular therapy, EB genetics, epigenetics & biology|
Publications related to the projectsA mouse model of generalized non-Herlitz junctional epidermolysis bullosa
Short lay summary
A spontaneous mutation arose in our mouse colony that resulted in a blistering skin disease. A colony of mice carrying this mutation, referred to as jeb, was established. These mice are essentially normal and live well into adulthood. However, their skin develops blisters that never fully heal. Pathologic analysis of biopsies confirmed that this mouse disease is very similar to one form of the human disease epidermolysis bullosa (EB). We mapped the location of the mutant gene to the part of the genome that contains the mouse equivalent of the human LAMC2 gene. Mutations in this human gene are associated with Junctional EB (JEB), and there is a high probability that our mouse jeb mutation mimics the form of JEB in which affected people survive beyond the neonatal phase into adulthood.
We intend to further characterize this mouse to determine the specific subtype of JEB that these mice develop, define the specific mutation in the DNA that causes JEB in mice, and search for other genes that change the clinical features and especially severity in patients. An important use of these jeb mice that survive into adulthood is that they provide an ideal model to test new therapeutic approaches for EB. Since The Jackson Laboratory is not only a basic science research institution but a repository and distribution center for mutant mice and has a new program to develop interactions with pharmaceutical companies to use this and other mouse models for specific human disease to screen new drugs, we are in an ideal position to make these mice available to the biomedical research community once they are characterized to encourage rapid progress on understanding and better treating this disease.