Mutation responsible for cystic fibrosis also involved in muscle atrophy

July 31, 2009

Patients with cystic fibrosis (CF) usually experience significant muscle loss, a symptom traditionally considered to be a secondary complication of the devastating genetic disease. However, a recent study by Dr. Basil Petrof reverses the equation: his results show that muscle atrophy and weakness may be a primary symptom caused by the effects of CFTR gene mutations on the muscle itself. Dr. Petrof's findings will be published on July 31 in Public Library of Science -- Genetics.

Cystic fibrosis is known to be caused by a specific mutation on the CFTR gene. Dr. Petrof's study demonstrates for the first time that the CFTR gene is also present in skeletal muscles, where it plays a role in calcium regulation.

"After analyzing our results, we believe that defects in the CFTR gene are directly involved in the wasting and weakness seen in many CF patients," Dr. Petrof explained. "And in the specific case of the diaphragm, a muscle required for breathing, this can potentially lead to fatal respiratory failure when the lungs are infected."

The researchers' data also show that and increased inflammation in the body are major triggers which interact with the genetic mutation to cause muscle atrophy and weakness in CF mice. These results are also applicable to humans.

"Our study suggests that one way to fight CF-related muscle atrophy is to aggressively control inflammation and infection in our patients. In fact", continued Dr. Petrof, "this is what current treatments already try to do; we simply need to reinforce them. In addition, our study suggests that a new way to treat the problem in the future may be to use drugs which can prevent an excess calcium build-up in their ."

These new findings run contrary to the traditional belief that muscle atrophy in CF patients is simply the consequence of a lack of exercise or poor nutrient absorption. Although these explanations undoubtedly play a role in some patients, it now appears that a primary cause of the muscle loss could actually be genetic in origin. This new evidence that the CFTR gene plays a role in skeletal muscle could help researchers to develop novel therapies for improving the function of the diaphragm and other muscles in .

CF is a genetic disease caused by mutations in the CFTR gene. This gene is involved in the movement of chloride and other ions across cell membranes; its mutation causes a thickening of secretions in the lungs and other organs. In the lungs, these thicker secretions clog and block air passages which promote respiratory infections.

Source: McGill University Health Centre (news : web)

Explore further: Key finding in rare muscle disease

Related Stories

Key finding in rare muscle disease

January 17, 2007

The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Australian ...

Muscle weakness: New mutation identified

June 14, 2007

New research, published in The Journal of Physiology, has identified a novel mutation associated with muscle weakness and distal limb deformities. The study demonstrates that muscle weakness experienced by persons with a ...

Mucous breakthrough in mice holds promise for cystic fibrosis

July 29, 2008

A London, Canada scientist studying cystic fibrosis (CF) has successfully corrected the defect which causes the overproduction of intestinal mucous in mice. This discovery by Dr. Richard Rozmahel, a scientist with the Lawson ...

New drug hope for cystic fibrosis patients

September 9, 2008

A new drug therapy may represent a tremendous step forward in the treatment of some 70,000 cystic fibrosis (CF) patients worldwide, Dr David Sheppard from the University of Bristol will tell an audience at the BA Festival ...

Recommended for you

How the finch changes its tune

August 3, 2015

Like top musicians, songbirds train from a young age to weed out errors and trim variability from their songs, ultimately becoming consistent and reliable performers. But as with human musicians, even the best are not machines. ...

Machine Translates Thoughts into Speech in Real Time

December 21, 2009

( -- By implanting an electrode into the brain of a person with locked-in syndrome, scientists have demonstrated how to wirelessly transmit neural signals to a speech synthesizer. The "thought-to-speech" process ...


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.