Genetics of interstitial lung disease

Genetics of interstitial lung disease

What is interstitial lung disease?

Interstitial (pronounced as in-tur-STISH-ul) lung disease (ILD) describes a large group of disorders. Most of these diseases cause scarring of lung tissue that can get worse over time. The scarring affects your ability to breathe and get enough oxygen into your bloodstream. ILD can be caused by long-term exposure to hazardous materials, such as asbestos. Some types of autoimmune diseases can also cause ILD. 

Symptoms often include: 

• Shortness of breath at rest or during exertive activities.
• Dry, hacking cough. 
• Fatigue. 
• Unexplained weight loss.
• Muscle and joint pain. 

There is no cure for ILD. Current treatments aim to slow the progression of the disease, relieve symptoms, and improve quality of life. 

How was the research done?

Researchers will set up a case-control study. The cases will include children and adults that have ILD. The controls will include adults over the age of 50 without ILD. They will look for variants in a special set of genes related to mitochondria. The mitochondria are the site of the cell’s energy production. The way these genes work may have ties to ILD. They will test the idea that abnormal mitochondrial genes and function are connected to the injury, poor healing, and scarring seen in ILD.

What is the significance of this study?

This study will allow researchers to identify if mitochondrial functions are linked to ILD. These findings could develop ways to prevent the disease and better treatments for spotting it early.