How Does Cystic Fibrosis Express Itself?

Meconium ileus associated with cystic fibrosis symptoms share genes

(RxWiki News) The same disease can have different symptoms in different people. For cystic fibrosis, researchers are beginning to understand why it affects people in different ways.

Cystic fibrosis is a genetic disease that can affect the lungs, liver or pancreas each with their own set of varying symptoms.

Researchers isolated several genes that were associated with severe intestinal blockage. These genes could be the target of future treatments for cystic fibrosis.

"Ask your doctor about genetic tests for cystic fibrosis."

The study was led by Dr. Lisa Strug from The Hospital for Sick Children and the University of Toronto. Researchers analyzed the genetic data of 4,000 cystic fibrosis patients from the International Consortium in Gene Modifiers of Cystic Fibrosis.

The data revealed that several genes associated with meconium ileus could be associated with how cystic fibrosis expresses itself in different organs.

Cystic fibrosis occurs because of a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR), a protein that regulates chloride transport. Meconium ileus occurs in newborns where stool becomes too thick and causes a blockage in the small intestine.

Genes associated with meconium ileus may affect other diseases in organs that are affected by cystic fibrosis. According to the study, 15 percent of cystic fibrosis patients had meconium ileus as newborns.

Because cystic fibrosis is caused by a genetic mutation, researchers believe it is important to understand how different genes interact with the mutated CFTR. Different genes may affect the behavior of cystic fibrosis and researchers hope to target those genes for treatment.

Understanding the role genes play in cystic fibrosis can lead to treatment tailored to the individual and their specific cystic fibrosis symptoms. Future studies can target the genes associated with meconium ileus and see how it affects cystic fibrosis symptom development. 

Funding was provided by the Canadian Institutes of Health Research, Cystic Fibrosis Canada, the Cystic Fibrosis Foundation, the University of Toronto McLaughlin Centre, Genome Canada, the Ontario Research Fund, the National Institutes of Health and SickKids Foundation, and the Natural Sciences and Engineering Research Council of Canada

This study was published in the April edition of Nature Genetics.

Review Date: 
April 4, 2012