Gene variations linked to intestinal blockage in newborns with cystic fibrosis

April 1, 2012, University of North Carolina School of Medicine

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 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 that causes scarring throughout the body, especially the lungs and . Though every CF patient carries mutations in both copies of the same gene – coding for a protein called transmembrane conductance regulator, or CFTR – symptoms can vary widely from patient to patient.

The genome-wide association study (GWAS) of more than 3,700 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 in ion transporters in CF, which may be applicable to more commonly, and severely, involved organs such as the lungs."

Explore further: Study identifies genome regions that could influence severity of cystic fibrosis

Related Stories

Study identifies genome regions that could influence severity of cystic fibrosis

May 23, 2011
A team of researchers, including a number from the University of North Carolina at Chapel Hill School of Medicine, have pinpointed regions of the genome that contribute to the debilitating lung disease that is the hallmark ...

Cystic fibrosis drug reverses genetic abnormality in the CF mutation

November 28, 2011
The Lung Institute of WA (LIWA) has recently made a breakthrough in the search for a drug to improve the quality of life of patients with Cystic Fibrosis (CF).

Unraveling a new regulator of cystic fibrosis

September 19, 2011
Cystic fibrosis (CF), a chronic disease that clogs the lungs and leads to life-threatening lung infections, is caused by a genetic defect in a chloride channel called cystic fibrosis transmembrane conductase regulator (CFTR). ...

Recommended for you

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

Study advances gene therapy for glaucoma

January 16, 2018
While testing genes to treat glaucoma by reducing pressure inside the eye, University of Wisconsin-Madison scientists stumbled onto a problem: They had trouble getting efficient gene delivery to the cells that act like drains ...

How incurable mitochondrial diseases strike previously unaffected families

January 15, 2018
Researchers have shown for the first time how children can inherit a severe - potentially fatal - mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University ...

Genes that aid spinal cord healing in lamprey also present in humans

January 15, 2018
Many of the genes involved in natural repair of the injured spinal cord of the lamprey are also active in the repair of the peripheral nervous system in mammals, according to a study by a collaborative group of scientists ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.