Chronic Obstructive Pulmonary Disease
What is COPD?
COPD stands for chronic obstructive pulmonary disease, an illness that makes it difficult to breathe. It causes coughing with heavy mucus production, wheezing, shortness of breath, and chest tightness, among other symptoms. The disease is progressive and chronic, meaning it worsens over time as lung airways become more narrow, which increasingly blocks the flow of air. COPD is actually not one disease but several, for which airflow obstruction is the common symptom. The best-known of these diseases are chronic bronchitis (predominantly a disease of the airways) and emphysema (the destruction of lung tissue itself).
Who gets COPD?
Smoking is the biggest risk factor for all types of COPD; ninety-nine percent of those diagnosed have a history of cigarette use. A smoker’s respiratory tract is bathed in toxins from cigarette smoke, which provokes a potent inflammatory reaction. The location of this reaction determines the type of COPD that develops.
The surprising statistic, however, is that only 10 to 20 percent of smokers get COPD. For the rest, their bodies somehow keep inflammatory reactions in check, allowing airways and lung tissue to recover. It could be that in those smokers who develop COPD, the genes involved in controlling inflammatory responses to toxins are not being properly expressed (turned “on” or “off”). The reactions are therefore greater, and the damage that occurs is not repaired.
Is COPD only a "smoker's disease"?
No. In addition to exposure to indoor or outdoor pollutants, including secondhand smoke, other causes of COPD unrelated to smoking are certain genetic defects, including alpha-1-antitrypsin (A1AT) deficiency, or Alpha-1 for short. A1AT is a protein in the blood that blocks an enzyme called elastase, which white blood cells use to neutralize bacteria and tiny particles inhaled into the lungs. Without A1AT to stop elastase once its job is done, the enzyme can go on to destroy the normal air sacs of the lung. People who completely lack A1AT develop emphysema at a young age (in their 30 to 40s); those born with a less active form of A1AT and who also smoke are at extremely high risk of COPD. There may be other genes that contribute to susceptibility to COPD, something scientists hope to one day learn.
How is the LGRC studying COPD?
One of the LGRC’s goals is to thoroughly evaluate the genetics and the genomics of the human respiratory tract by comparing lung tissue samples from smokers who develop COPD with samples from smokers who don’t. We want to find out what causes COPD and how its incidence varies among individuals who have it. These first steps can lead researchers to design better therapies targeted at individual patients—in other words, to use a personalized medicine approach in treating COPD.
We’re also using the predictive power of genomic science to identify who might be at risk of developing COPD, before it happens. Genomic studies could also pave the way for new drugs that might reverse the disease early on, or even prevent it entirely. This is important because although current therapies can sometimes control COPD, there is currently no cure for the disease.
For more information, visit the National Heart, Lung, and Blood Institute’s page on COPD.
Interstitial Lung Disease
What is ILD?
If you want to breathe easily, it’s important that your alveoli—the tiny air sacs within your lungs—remain springy and elastic, so they can efficiently exchange carbon dioxide for oxygen. Sometimes, however, alveoli become scarred and collapse (picture the texture of a dried-up sponge). This makes the exchange of gases during respiration, and the act itself of breathing, more difficult.
Interstitial lung disease (ILD) is actually a group of disorders where such scarring, or fibrosis, of lung tissue occurs and is progressive. There are many causes of ILD, including: occupational or environmental exposure to irritants like asbestos and silica, radiation therapy, some types of chemotherapy drugs, and connective tissue diseases like lupus and rheumatoid arthritis.
Who gets ILD?
The biggest misconception about ILD is that it’s rare. In fact, while most people are unfamiliar with the term “ILD,” many probably know someone who is suffering from one of ILD’s many forms or who has died from the disease. According to doctors, there might be 100 or more types of ILD, although only about half are generally seen in the clinic. Most forms are still poorly understood, unsolved medical puzzles.
The best explanation for ILD that we have so far is that repeated injury to the lungs leads to abnormal repair of the alveoli. In other words, although the human body normally generates just the right amount of tissue to repair damage, an excessive amount is made in the case of ILD.
Idiopathic pulmonary fibrosis: The most common ILD
Despite its prevalence, the cause of idiopathic pulmonary fibrosis (IPF) is still unknown (hence the term “idiopathic”). More than half of the people with this form of ILD will die within three years of diagnosis, while others exhibit milder symptoms and survive much longer. Researchers believe that genetic factors are at play in individual patients.
In fact, studies indicate that nearly 20 percent of sufferers may have a genetic predisposition to IPF. So far, two sets of genes have been identified as likely culprits associated with IPF: rare mutations in genes coding for two proteins that normally help keep alveoli from collapsing upon themselves, and mutations in telomerase genes, which help protect the ends of our chromosomes.
How is the LGRC studying ILD?
The LGRC is using sophisticated genomic technologies to examine ILD at the molecular level. By carefully analyzing genes and their expression profiles in affected individuals, we hope to discover unique types of ILD and better define their key characteristics. We also want to determine whether certain mutations that occur in the lungs are placing individuals at risk of developing IPF.
As we learn more about ILD, we may be able to use genetic data together with information such as age, dust exposure levels, and other factors to predict a person’s susceptibility to ILD or to select the best treatment for a patient. Moving forward, our goal is to also develop new, more effective therapies that will improve the length and quality of life for those faced with this challenging disease.
For more information, visit the National Jewish Health’s page on ILD.
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