New research lab looks at rare, incurable disease leaving young women breathless
22 April 2010, Sydney
The Woolcock Institute of Medical Research, a leading institute specialising in respiratory and sleep research, officially opened the doors of its new laboratory which will investigate the cellular and molecular causes of chronic airway diseases. A specific focus for 2010 is the Institute’s unique research into LAM (lymphangioleiomyomatosis), a very rare and incurable lung disease, which only affects young women. Bettina Arndt, journalist and Patron of the LAM Australasia Research Alliance (LARA) kindly opened the labs to an audience of over 50 external guests last night.
LAM is a progressive lung disease caused by a random gene mutation, which affects only women and strikes in the prime of their lives typically during child bearing years. Although prognosis is improving, a sufferer’s lifespan was predicted at 10-15 years from diagnosis and there is currently no cure, with a lung transplant the ultimate treatment.
Research is integral to understanding the causes of LAM, including why it affects only women, as well as developing treatments and improving patient outcomes. The Cell Biology Group, which now opens a new laboratory at the Institute, is currently conducting specific cell research into LAM.
The Cell Biology Group with support from the CRC for Asthma and Airways made an important discovery in 2008, which involved identifying and cloning a molecule (now called ‘lamstatin’) which is present in healthy, but not LAM lungs. This molecule stops the growth of LAM cells and the overgrowth of lymph vessels. Studying the way in which lamstatin works helps the researchers understand how to halt the progression of the disease.
This discovery has brought the team closer to their goal of understanding where LAM cells originate and how they divide and migrate. The group hopes to discover a solution by investigating the similarities LAM has to other diseases.
Research Leader, Professor Judy Black says “We are a very passionate team of researchers. Patients with LAM who are undergoing lung transplantation are very keen to “donate” their diseased lungs to us. The availability of such precious tissue opens up rare research possibilities. Just last month when a LAM lung arrived in the lab, the whole group immediately diverted their attention to it.”
LAM is a rare disease, affecting one to three women in a million. “There are currently around 70 sufferers in Australia,” says Professor Black. “Most women and even some health care professionals, are unaware of LAM’s existence and symptoms and we suspect that the disease is under-diagnosed as a result.”
Professor Black says, “Women with LAM (which may soon be classified as a cancer) may experience varying degrees of breathlessness. Some women are short of breath only on exertion, while others are breathless even at rest. This symptom is common to other conditions, like asthma and can therefore be overlooked.”
It is estimated that around 250,000 women worldwide are affected . LAM causes the lung capacity of the sufferer to progressively decline, resulting in the need for oxygen therapy. It is characterised by an unusual type of smooth muscle cell that grows uncontrollably and invades the tissues of the lungs, including the airways, and blood and lymph vessels. The accumulation of LAM cells forms nodules and cysts, which destroy healthy tissue. Over time, LAM cells create holes in the lungs, preventing the lungs from providing oxygen to the rest of the body and making breathing a daily battle. Symptoms of LAM include varying degrees of breathlessness, collapsed lung, chest pain, cough, or fatigue. Further information can be found at the LAM Australasia Research Alliance (LARA) website, www.lara.org.au
