( gy and medical genetics and a researche...)Researchers discover inherited mutation for leukemia

"Recently, many cancer geneticists have come to believe that such subtle changes are common causes of cancer, and this is one of the first, strong examples of that principle."

The study succeeded because it combined the field of gene mutation research and the new field of epigenetics, which identifies genes silenced by faulty DNA methylation, says Christoph Plass, professor of molecular virology, immunology and medical genetics and of veterinary biosciences, and also co-principal investigator on the study.

"Our findings show that it's important to look for both genetic and epigenetic alterations when identifying problem genes," he says.

CLL is the most common form of adult leukemia, with 15,300 new cases and 4,500 deaths from the disease expected this year in the United States. The leukemia is slightly more common in men than women, and typically strikes people who are in their 50s, 60s and 70s.

About 90 percent of CLL cases are sporadic; that is, they have no genetic component.

But about one in 10 people with CLL have relatives who also develop the disease – strong evidence of a hereditary predisposition. However, usually only two or three people within a family are affected, making it difficult to do the genetic studies needed to find possible mutations, Plass says.

The family examined in this research was identified by collaborator Henry Lynch at Creighton University.

The researchers are now studying the chemical pathway that regulates the gene, considering possible therapies, working to identify other CLL families and looking for other predisposing genes.

In 2005, other Ohio State Comprehensive Cancer Center researchers discovered a germline mutation in a gene for a microRNA that is implicated in CLL,
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Source:Ohio State University