Some Cystic Fibrosis Patients May Live Longer Due to Special Mutation

Most people are aware that cystic fibrosis is a disease that people are born with. What most people would never think is that some of the gene mutations involved might actually help them live longer.

It’s easy to wonder: How can mutated genes that cause such a debilitating disease prolong life? At first glance, it doesn't seem right.

A bad mutation causes cystic fibrosis, but what if a good mutation could help suppress it too?

It turns out the genetics behind cystic fibrosis are more complicated than one might think. For example, the most common genetic mutation for the disease can manifest in many different ways. People sharing the same mutation present in a wide range of different severities of the same disease. Some have terrible lung damage, while others have minimal symptoms. Why might the same mutation manifest in so many different ways?

Doctors at Boston Children's have been working hard to find some answers

Researchers at Boston Children's wondered whether genetic mutations could actually protect people from the symptoms of cystic fibrosis. They found that this was indeed the case. To investigate this, lead researcher Dr. Pankaj Agrawal led a team to conduct a longitudinal analysis of the genetic modifiers related to cystic fibrosis.

The first longitudinal study of gene modifiers in cystic fibrosis was established

Dr. Pankaj Agrawal is the medical director of the Manton Center's Gene Discovery Core at the hospital. He is also the co-first author for this study. He also worked with Dr. Ruobing Wang, a pulmonologist, and Dr. Craig Gerard, the chief of the Division of Respiratory Diseases. This was the first longitudinal study of its kind looking at modifier genes in cystic fibrosis, which are outside genes from what we classically know to cause the disease. Rather, these genes affect disease by interacting with the cystic fibrosis mutations to either upregulate or downregulate expression.

5 special cystic fibrosis patients in a huge cohort were identified

The team looked through data on 600 cystic fibrosis patients who were registered at the Boston Children's Cystic Fibrosis Center. They found that there were 5 particular patients who stood out - alive in their 50s and 60s. What surprised the investigators further was not only their advanced age but that their lung function was actually still pretty good!

Rare cases of cystic fibrosis can benefit from minimal symptoms and longer life - what if we could share this benefit with the rest of the cystic fibrosis community?

These five special individuals represented the rare case when cystic fibrosis symptoms are minimal. They wanted to know more about what caused such a wide variability in clinical manifestations.

Some patients need a lung transplant before puberty - so what is it that helped these 5 patients live longer with healthier lungs?

Read on to find out what makes these CF patients different.