Genetic variations could be linked with meconium ileus in CF patients

University of North Carolina at Chapel Hill researchers working as part of the International Cystic Fibrosis Consortium have discovered several regions of the genome that may predispose cystic fibrosis (CF) patients to develop an intestinal blockage while still in the uterus.

A report of this international study appears online April 1, 2012 in the journal Nature Genetics. It was the work of the North America CF Gene Modifier Consortium, which brought together dozens of investigators from the United States, Canada, and from France, to identify genetic variations that could be linked with meconium ileus (MI), an intestinal obstruction that usually requires emergency surgery for treatment, and can result in a substantially increased rate of serious health problems.

MI affects roughly 15-20 percent of all patients with CF, a genetic condition that causes scarring throughout the body, especially the lungs and pancreas. Though every CF patient carries mutations in both copies of the same gene - coding for a protein called cystic fibrosis transmembrane conductance regulator, or CFTR - symptoms can vary widely from patient to patient.

The genome-wide association study (GWAS) of more than 3,700 CF patients identified non-CFTR genetic variants in the cell membrane that separates the interior of cells from the outside environment. More specifically, the variants involved genes responsible for ion transport in the lower end of the small intestine.

"These variants involve cells in the small intestine that predispose CF patients to develop MI while still in the womb," said one of the senior study authors Michael Knowles, MD, professor of pulmonary and critical care medicine at UNC and a member of UNC's Cystic Fibrosis-Pulmonary Research and Treatment Center.

"The discovery provides new understanding of the pathogenic mechanisms underlying MI. In addition, it offers the possibility of developing therapies to intervene in utero," Knowles said. "Further, it provides molecular insight into the role of genetic variation in ion transporters in CF, which may be applicable to more commonly, and severely, involved organs such as the lungs."

Comments

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
Post a new comment
Post

While we only use edited and approved content for Azthena answers, it may on occasions provide incorrect responses. Please confirm any data provided with the related suppliers or authors. We do not provide medical advice, if you search for medical information you must always consult a medical professional before acting on any information provided.

Your questions, but not your email details will be shared with OpenAI and retained for 30 days in accordance with their privacy principles.

Please do not ask questions that use sensitive or confidential information.

Read the full Terms & Conditions.

You might also like...
Study finds genetic counseling gaps among breast cancer survivors