Researchers at Montreal’s Ste-Justine Hospital have determined the gene responsible for causing the specific type of cirrhosis that affects Cree people. The gene, named cirhin, took four years to isolate.
“Because we couldn’t find the cause of the disease and we knew it was genetic, we looked for that,” says the hospital’s Dr. Andree Rasquin. “We have the tools to do that now.” She says that the type of cirrhosis is only found in the Cree communities, and that “we are not aware of the same kind of disease anywhere else in the world.”
The disease was identified in the 1970s as a hereditary illness, a mutated gene that is passed on. One in 10 people is a carrier of this disease, which is a much higher elevated rate than among non-natives. Two people who are carriers have a 25 per cent chance of passing it on to their offspring. Dr. Rasquin says that it is not caused by alcohol or any of the other reasons commonly associated with cirrhosis of the liver and states that they still do not know the cause. “We know the gene now but we don’t know what it does. We need to determine what it’s doing.”
Cirrhosis refers to a disease of the liver in which normal cells are replaced by scar tissue. This condition results in the failure of the liver to perform many of its usual functions. The liver has many functions which include the production of proteins and enzymes. It is also involved in the regulation of cholesterol and the storage of energy. The loss of normal liver function in cirrhosis leads to abnormalities in the ability of the liver to handle drugs and toxins. The loss of normal liver structure in cirrhosis also interferes with the normal flow of blood through the liver.
Complications resulting from cirrhosis can be serious. These include internal bleeding, kidney failure, mental confusion, coma, body fluid accumulation, and frequent infections. There are many causes of cirrhosis.
The detection of the mutated gene is a giant step forward in the hopes of finding a cure. It will still take a few more years to determine the cause though.
Anybody wishing to determine whether or not they are a carrier can contact Dr Grant Mitchell, head of genetic medicine at Ste-Justine (514) 345-4727. He asks that you leave a message and you will be contacted. The test consists of taking a blood sample, but only after meeting with Dr. Mitchell to see if there are any indications of having the disease.
