Researchers discovered the gene that causes cystic fibrosis quite some time ago. A new collaborative study reveals the specific regions on some genes that influence how severe a case of cystic fibrosis a child will have. This could lead to customization of treatments in the future for kids who have cystic fibrosis.
Cystic fibrosis is a disease that causes a person to produce thick, sticky, mucus that can build up in the person’s lungs and digestive tract. This is the most common chronic lung disease in children and young adults. Kids with cystic fibrosis can have difficulty breathing, due to the build up of mucus. The mucus also can cause the child to have difficulty breaking down and absorbing food.
All children are going to get sick from time to time, and this is usually nothing for a parent to worry much about. However, due to the nature of the disease, it is especially dangerous for kids who have cystic fibrosis to get sick. On average, a child who is born with cystic fibrosis has an expected lifespan of around 35 years (but this is just an average). Lifespan depends largely on the how severely the person has the disease.
A study was done that used DNA from 3,467 patients. Most of the patients had cystic fibrosis. This included patient data from unrelated patients from the Genetic Modifier Study, from the Canadian Consortium for Genetic studies, and from the CF Twin and Sibling study at Johns Hopkins, (that used related patients and their parents).
Investigators analyzed 600,000 sites of variation within the genome that relates to cystic fibrosis. They were in search of variations that are more frequently associated with severe cases of cystic fibrosis. The researchers found a region on two of the genes on chromosome 11 that are linked to the severe version of cystic fibrosis. There is another region on chromosome 20 that was also identified. They also found five different genes that can be turned on in respiratory cells that related to cystic fibrosis. Some of those genes are ones that have been known to cause inflammation.
The hope is that the information learned by this study can be used to create treatments for children who have cystic fibrosis that are more customized to the child’s needs than current treatments are. The researches think that perhaps, in the future, a child could be screened to see if his or her genes link to the milder form of cystic fibrosis, or the more severe form. These treatments could, potentially, push up the average life expectancy for children who have cystic fibrosis.
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