There are many different interstitial lung diseases and it is very challenging to diagnose and treat each one. One of these diseases is Lymphangioleiomyomatosis (LAM for short). LAM is a rare cystic lung disease which is unique to women, especially those in their child bearing years. Women with LAM are often advised that pregnancy may make their condition worse, and air travel may not be an option.
Declining lung function is the result of overgrowth of mutant abnormal cells which invade the lungs via the lymphatic system and replace normal lung tissue. Cysts may also occur in the kidneys and abdomen. Although there is as yet no cure, the immunosuppressive drug rapamycin can halt disease progression in many women. If disease progresses, lung transplantation is the only course of action.
Our research focuses on identifying proteins that can help clinicians understand which people have progressive lung diseases and therefore require specialised treatment. We have identified a protein, fibulin-1, that may be important in the fibrotic process in interstitial lung disease and are now investigating the potential for this protein to define the likelihood of disease progression. We are developing advanced technologies that target these diseases.
Specifically, we are trying to understand what goes wrong in LAM and we have discovered that LAM patients are missing a vital protein called lamstatin from their lung tissue. Lack of lamstatin leads to overgrowth of lymphatic vessels and spread of abnormal LAM cells throughout the lung. We are testing combinations of drugs which will not only stop LAM cells from multiplying, but also decrease their spread. Examination of blood from women with LAM will also yield valuable clues as to what additional abnormal proteins are present and can be targeted.
Our research has been greatly assisted with funds from the LAM Australia Research Alliance. The primary objective of LAM Australia Research Alliance is to raise funds for LAM research. Other principal objectives are to raise awareness of the disease, particularly within the medical profession, and to support women living with LAM. (www.lamaustralia.org.au).