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03/29: Genetic link to deadly lung disease discovered at BC Cancer Agency
Research helps us understand cancer and other diseases
Researchers at the BC Cancer Agency and Johns Hopkins University have discovered an important genetic link in a devastating lung disease which could lead to therapies for a previously untreatable ailment. Their work is published today in the New England Journal of Medicine.
The key are the normal ends of chromosomes called telomeres, which consist of repetitive DNA and associated proteins. Telomeres provide a protective ‘cap’. When these caps aren’t the right size or shape, chromosomes can become unstable, leading to growth defects and disease. Dr. Peter Lansdorp, a senior scientist at the BC Cancer Agency’s Terry Fox Lab, measured the length of telomere repeats in white blood cells from individuals with idiopathic pulmonary fibrosis (IPF) and their family members and found that genetic defects in telomere maintenance are directly related to the onset of IPF.
“It now appears the range of diseases caused by telomere shortening is much larger that we previously appreciated,” says Dr. Lansdorp. “We can now use telomere length as a way to identify patients that carry mutations in telomerase genes and facilitate the correct diagnosis of this disease.”
According to the Canadian Lung Association, five million people worldwide are affected by pulmonary fibrosis, and 40,000 die each year. Up to 20 percent of patients have a family history of the disease. Mutations in telomerase genes were found in 10 percent of the familial cases.
Understanding the cause of familial IPF may help provide relief to patients. Traditional treatment – immunosuppressants – have little or no effect. This research provides a target for genetic testing, and hopefully treatment such as gene therapy in the future. The next steps for Dr. Lansdorp and his team is to continue to investigate why short telomeres arise, in order to adequately prevent or treat these diseases.
While the BC Cancer Agency is focused on cancer research, this type of work is important because telomeres play a critical role in the development of cancer. The work on IPF has implications for cancer and other diseases with abnormal telomerase expression.
Core support for research at the BC Cancer Agency is provided by the BC Cancer Foundation. Funding for this research was provided by the National Institute of Health (US), the Michael Smith Foundation for Health Research, and the Canadian Institute of Health Research.
The BC Cancer Agency, an agency of the Provincial Health Services Authority, is committed to reducing the incidence of cancer, reducing the mortality from cancer, and improving the quality of life of those living with cancer. It provides a comprehensive cancer control program for the people of British Columbia by working with community partners to deliver a range of oncology services, including prevention, early detection, diagnosis and treatment, research, education, supportive care, rehabilitation and palliative care. The BC Cancer Foundation raises funds to support research and enhancements to patient care at the BC Cancer Agency.
Contact:
Nicole Adams
Director, Communications
BC Cancer Agency
Tel: 604.675.8105
Cel: 604.230.1463
nadams@bccancer.bc.ca
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