The overall objective of the proposed research is to develop molecular therapies for pseudoxanthoma elasticum (PXE), a pleiotropic multisystem disorder affecting the skin, the eyes, and the cardiovascular system with progressive pathological mineralization of soft connective tissues, primarily the elastic structures. This heritable disease is caused by mutations in the ABCC6 gene, which is highly expressed in the liver and the kidneys and serves as a metabolic transmembrane transporter. The metabolic nature of PXE has been proven by our recent studies using a PXE mouse grafting and parabiosis models (see Preliminary Studies). However, there is no cure or effective treatment for PXE so far.

Public Health Relevance

The overall objective of the proposed research is to develop molecular therapies for pseudoxanthoma elasticum (PXE), a pleiotropic multisystem disorder affecting the skin, the eyes, and the cardiovascular system with progressive pathological mineralization of soft connective tissues, primarily the elastic structures.

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Clinical Investigator Award (CIA) (K08)
Project #
5K08AR057099-03
Application #
8290499
Study Section
Arthritis and Musculoskeletal and Skin Diseases Special Grants Review Committee (AMS)
Program Officer
Tseng, Hung H
Project Start
2010-07-01
Project End
2014-06-30
Budget Start
2012-07-01
Budget End
2013-06-30
Support Year
3
Fiscal Year
2012
Total Cost
$116,627
Indirect Cost
$8,639
Name
Thomas Jefferson University
Department
Dermatology
Type
Schools of Medicine
DUNS #
053284659
City
Philadelphia
State
PA
Country
United States
Zip Code
19107