Salt Lake heart doctors spot gene mutation

Cardiologists at LDS Hospital and the Mayo Clinic have identified a gene mutation that can lead to heart failure. Their findings are published in the Journal of the American Medical Association.

Dr. Jeffrey L. Anderson, associate chief of cardiology at LDS Hospital and co-investigator of the study, said the discovery will certainly improve understanding of how heart failure occurs and make it possible to screen members of families that are affected by the mutation.

Located in a gene on chromosome 3, it is thought to be responsible for about 5 percent of heart failure cases. Other mutations, not yet identified, are likely responsible for other heart failure cases, he said, but finding this one will help scientists learn more about the mechanics of the disease and explain some of the heart-related disorders considered "idiopathic," meaning the cause is not known.

Anderson said he expects to see early diagnosis and improved treatments as a result of the finding.

The discovery comes out of a 20-year search using the genetics of one strongly affected family, with milestone discoveries along the way. It began when an LDS Hospital cardiologist was treating a local family that seemed to have an unusually high number of relatives with various heart problems while in their 20s and 30s, including arrhythmias, atrial fibrillation and eventual heart failure. It seemed apparent, Anderson said, there was a genetic link. But where?

They collected genetic samples from members of the family willing to be studied.

When the cardiologist retired, he "turned the family over" to Anderson, who continued the research. One early study on the family, which extends from Utah into Wyoming and Idaho, was published in 1986 in the Western Journal of Medicine. A decade later, work with University of Utah researchers led by Dr. Tim Olson pinpointed genetic causes of a number of heart-related problems, including long QT syndrome. Olson published the result in 1996. When Olson joined the Mayo Clinic, the collaboration continued.

Two years ago, a new generation of the family started showing the same heart problems, and researchers finally found the gene and the mutation. Olson did the molecular biology work, using the samples Anderson had collected, then confirmed the mutation in several patients who had no link to the Utah family.

Anderson likens the 20-year search for the gene to trying to find a specific house without an address. They started with a city, then narrowed it to a neighborhood, and finally to the street. Now they have the actual address.