For people with cystic fibrosis, getting “back” into shape is a common occurrence. Because of the nature of the disease, patients often experience set backs in both their health and fitness routines. But, exercise is an important and essential part of remaining compliant with treatments and medications in order to live a longer, healthier life with CF. Continue reading CYSTIC FIBROSIS WIND SPRINT 66: CIRCUIT TRAINING 1
Researchers hypothesize that the newly-discovered mutations help re-hydrate the airways, discouraging bacterial build-up in the lungs.
Despite a narrow average lifespan, there is a big range in how severely cystic fibrosis (CF) affects the lungs and other organs depending on an individual’s specific genetic variation, and even in how long patients sharing the same, most common genetic mutation are able to survive with CF.
This led researchers at Boston Children’s Hospital to wonder if other genetic mutations could be protective against CF’s effects. Recent findings published in the American Journal of Respiratory Cell and Molecular Biology suggest that may be the case.
“There are some patients at one end of extreme severity who need a lung transplant very early in life, then others whose clinical presentation seems to stabilize so that they can live into the fifth and sixth decades of life,” says Pankaj Agrawal, MBBS, MMSc, principal investigator and medical director of The Manton Center’s Gene Discovery Core at Boston Children’s, who was the co-first author on the study.
To find out why, Agrawal and researchers at Boston Children’s — including Ruobing Wang, MD, a pulmonologist, and Craig Gerard, MD, PhD, chief of the Division of Respiratory Diseases — conducted the first-ever longitudinal analysis of genetic modifiers related to CF.
They combed through a population of nearly 600 CF patients registered at the Boston Children’s Cystic Fibrosis Center and found five individuals who stood out because of their advanced age — in their 50s or 60s — and relatively normal lung function.
“Given the large size of our center’s patient population, we were able to find a number of individuals at this rare ‘extreme,'” says Wang, who was co-first author on the paper.
A new hypothesis for mitigating cystic fibrosis
To discover the genetic variants, the researchers collected blood from these patients and performed whole exome sequencing on their DNA, analyzing the “coding” section of the genome that is responsible for most disease-related mutations.
Sequencing the genes of these five Boston Children’s patients — a cohort known as “long-term non-progressors” — the researchers found a set of rare and never-before-discovered genetic variants that might help explain their longevity and stable lung function.
The gene variants are related to so-called epithelial sodium channels (ENaCs), semi-permeable cellular pathways responsible for reabsorbing sodium in the kidney, colon, lung and sweat glands.
“Our hypothesis is that these ENaC mutations help to rehydrate the airways of CF patients, making it less likely for detrimental bacteria to take up residence in the lungs,” says Wang.
The discovery brings ENaCs into the limelight as a potential new therapeutic target.
“For example, if we could target ENaCs with a small molecule or an antibody-based drug, we might be able to incur a protective effect against CF’s progression,” says Agrawal, who is also a physician in the Boston Children’s Division of Newborn Medicine.
Based on their findings, the team is now doing further studies to analyze the genetics of patients at the other end of the CF spectrum — those with extremely severe clinical presentation of symptoms at a young age.
Boston Children’s Hospital. “Some people with cystic fibrosis might live longer because of genetic mutations: Researchers hypothesize that the newly-discovered mutations help re-hydrate the airways, discouraging bacterial build-up in the lungs.” ScienceDaily. ScienceDaily, 25 October 2017. <https://www.sciencedaily.com/releases/2017/10/171025150620.htm>.
By: Jacob Greene
Cystic Fibrosis is an awkward disease. Whether it’s coughing attacks in the middle of tests, the infamous CF digestive issues (for professionalism’s sake I will leave it at that, but you know what I mean), or loud treatments in the morning and at night, there are many awkward aspects to cystic fibrosis. CF’s median life expectancy is no different. Continue reading We Can, Right? – Guest blog from USACFA Fall 2017 Scholarship Winner
RARE LUNG DISEASES PATIENT EDUCATION DAY ON CYSTIC FIBROSIS, CHILDREN’S INTERSTITIAL LUNG DISEASE AND PRIMARY CILIARY DYSKINESIA
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This event is co-sponsored by the American Thoracic Society, the Cystic Fibrosis Foundation, the Children’s Interstitial Lung Disease Foundation and the Primary Continue reading You are invited to attend a free web-cast event SATURDAY, APRIL 22, 2017
A study published in the Annals of Internal Medicine concluded that “the median age of survival [is] 10 years higher [for CF patients] in Canada than the United States.”
If you’re wrapped up in the world of cystic fibrosis news like I am then you’ve probably seen this study floating around the Internet for the Continue reading OWN IT: Cystic Fibrosis Survival Rates in the United States vs. Canada
Lea Faraone, from the Salty Cysters, joins the podcast today to talk about her life with cystic fibrosis. At 26, she works as an oncology nurse, and is an advocate for people with cystic fibrosis. She uses the @SaltyCysters social media platform to spread educational awareness Continue reading Making it Matter Ep. 25 – Salty Cysters
Julia and I take a question from my most recent Facebook Live on the Boomer Esiason Foundation page, which asks about the progression of cystic fibrosis and how we deal with it.
Since cystic fibrosis is a progressive disease, it can take an emotional Continue reading Making it Matter Ep. 24 – Dealing with Disease Progression
Making it Matter Ep. 18 – Cystic Fibrosis and Long Term Relationships
Julia and I answer an email from a listener who asks about long term relationships, marriage and kids. Admittedly, neither Julia nor I are even close to that point in our lives, but we do discuss some of the things that are Continue reading Making it Matter Ep. 18
I Want Us to Stop Using the ‘Life Expectancy’ Statistic
Cystic fibrosis life expectancy gets tossed around like any number of statistics in the medical world. It’s something that people love to talk about, or use to show success and progress. Continue reading The ‘Life Expectancy’ Statistic — By Gunnar Esiason