Researchers have identified changes in a group of enzymes that may contribute to lung damage in people with Hermansky-Pudlak syndrome, a rare genetic disorder that sometimes causes breathing difficulty due to scar tissue formation in the lungs. Their study could lead to a new way to diagnose and treat lung complications associated with this disorder, they say.
Hermansky-Pudlak syndrome (HPS) is a rare form of albinism that is characterized by abnormally light pigmentation of the skin, hair, and eyes. It is associated with reduced vision, bruising, and prolonged bleeding. People with the condition can also develop pulmonary fibrosis, or lung scarring, which can be fatal. Researchers have known for some time that enzymes called matrix metalloproteinases (MMPs) play a role in maintaining the structural integrity of the tissues and are often altered in lung diseases. But the role of these enzymes in HPS is unclear.
In studies using mouse models of HPS, researchers studied whether MMP activity was altered in lung tissue. They found that certain subsets of MMPs were increased in the lungs of the mouse models and in fluid collected from the lungs of patients with HPS. They showed that, in both mouse models and patient samples, MMP was present at high levels prior to development of fibrosis, indicating that high levels of MMP may be associated with disease onset rather than progression of the disease.
The study, which was funded by NHLBI, appeared in Orphanet Journal of Rare Diseases.