Genetic variant identified in cystic fibrosis patients
Can lead to more rapid decline in lung function, Canadian researchers report
Last Updated: Friday, February 22, 2008 | 2:48 PM ET
Canadian researchers have discovered a genetic variant that can increase the severity of lung deterioration in children with cystic fibrosis.
Cystic fibrosis is a fatal genetic disease that predominantly affects the lungs and the digestive system. It is usually diagnosed in the first year of life, according to the Canadian Cystic Fibrosis Foundation.
Scientists at the Hospital for Sick Children, the University of British Columbia, the University of Toronto and Université de Montréal have identified a gene variant that makes CF patients more prone to a bacterial infection that can cause a rapid decline in their lung function.
The presence of the variant of the TGFB1 gene means the body produces less MBL2, a protein that defends us against bacterial infection. Almost all CF patients are prone to a type of bacteria called Pseudomonas aeruginosa, which causes lung disease. But in those patients where MBL2 levels are very low, the infection can set in sooner, leading to a chronic infection and a resistance to antibiotics.
"The study shows that those exhibiting this genetic combination may be at a higher risk of acquiring this infection at a younger age — on average nearly five years earlier than those with gene variants that produce normal MBL2 and TGFB1 levels — most likely leading to a faster rate of decline of pulmonary function," said Dr. Julian Zielenski, an associate scientist in the genetics and genome biology program at the Hospital for Sick Children and a lead author of the study.
"Patients experience a vicious cycle of infection and inflammation that destroys lung tissue, inhibits lung function, and erodes quality of life."
The researchers hope to one day develop a genetic test that can predict the severity of a patient's lung disease and possibly lead to MBL2 supplements.
In the study, researchers compared the MBL2 and TGFB1 genotypes of 1,019 children with CF. The findings are published in the February issue of the Journal of Clinical Investigation.
Top News Headlines
- Search continues for 2 missing New Brunswick fishermen
- A search effort has resumed for two missing fishermen off the coast of New Brunswick, after a distress call was issued from their boat early Saturday. more »
- Jeep driver apologizes after stunt kills Edmonton woman
- A man claiming to be the driver of a Jeep that struck and killed a spectator at a charity event in Edmonton says he is sorry for what happened. more »
- Senior Pakistani politician shot dead
- Gunmen in Pakistan have killed a senior member of Imran Khan's Movement for Justice (PTI) party outside her home in Karachi. more »
- Virginia parade crash driver likely had medical problem
- Authorities believe the driver who plowed into dozens of hikers marching in a Virginia mountain town parade suffered from a medical condition and did not cause the crash intentionally, an emergency official said Sunday. more »
Latest Health News Headlines
- Should genetic testing for cancer be available to all Canadians?
- The revelation that Hollywood celebrity Angelina Jolie had a double mastectomy as a preventative measure against cancer stoked heated discussion this past week, but one prominent cancer researcher says it demonstrates the need to make genetic testing available to all Canadians. more »
- It's all Greek to yogurt fans
- The latest craze at the grocery store is old hat in many Balkan countries, where the benefits of Greek yogurt have long been known. more »
- Antipsychotic drugs recalled
- Health Canada says three companies are voluntarily recalling all lots of the antipsychotic drug quetiapine. more »
- Diane-35's benefit as acne drug outweigh risks, Health Canada finds
- The benefits of Diane-35, an acne drug that is prescribed as birth control, outweigh its risks, Health Canada says. more »
- Harper chief of staff resigns amid Senate expense scandal
- Spectator killed at Edmonton Jeep event
- Car drives into crowd at Virginia parade
- Toronto Mayor Rob Ford cancels weekly radio show
- Email is proof Senate greenlit expenses, Brazeau says
- Senior Pakistani politician shot dead
- Astronaut Chris Hadfield adjusts to 'earthling' life
- Winning ticket sold in Florida for $590M Powerball jackpot
- Iran hangs 2 men convicted of spying