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Friday August 11 5:45 PM ET
Heart Tumor Traced to Genetic Mutation
NEW YORK (Reuters Health) - The Carney complex, an inherited disorder that involves heart tumors, or myxomas, has now been linked to specific genetic mutations, according to a report in the September issue of The Journal of Clinical Investigation.
Mutations in a gene involved in regulating cell growth are now believed to be responsible for the range of findings seen in the Carney complex, which includes myxomas of the atrium--the upper pumping chamber of the heart.
At present, surgical removal is the only way to treat cardiac myxomas.
``You have to hope that you catch it in time before the patient suffers a stroke or the tumor stops their heart altogether,'' said study co-author Dr. Craig T. Basson of Weill Medical College of Cornell University in New York.
``A small number of adults actually get heart tumors--roughly 7 in 10,000--and about 7% of those have this genetic abnormality,'' he said.
``In our published study, we examined three families by first conducting an extensive clinical examination that included blood work and an echocardiogram (an ultrasound of the heart),'' Basson explained to Reuters Health.
``We then did a genetic analysis, which included using genetics maps created by the Human Genome Project,'' Basson said. ``We identified common patterns of variation in the DNA sequences of these families that we suspected had the genetic abnormality,'' he added.
Basson noted that the aim of the study was primarily to investigate a human disease that is genetically based and where the primary result was abnormal growth and development of cells. In this instance, the organ that is affected is the heart.
The researchers hope to be able to learn exactly what triggers the genetic abnormality with the ultimate goal being that scientists could regulate them with the intentions of stimulating new tissue growth or repair defects.
The discovery of the genetic mutation opens up the possibility that people believed to be at risk could be screened for the mutation, Basson pointed out. If they have the mutation, they could get regular exams each year and surgery, if necessary.
SOURCE: The Journal of Clinical Investigation September 2000.
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