High Cholesterol is in Your Genes

High Plasma Cholesterol Gene Identified

Amsterdam, 31 August 2005 - Until now, the genetic causes of diseases such as cancer, heart disease, and diabetes, have proven very elusive. A new approach, reported in Elsevier's journal Genomics, may soon put an end to this. Scientists have successfully used this method to identify the specific gene involved with high cholesterol.

The genetics of some human diseases can be quite easily defined: a simple mutation in a single gene causes it to malfunction or be inactivated. The gene's mutation can then be shown to be the direct cause of the disease. Unfortunately, however, the genetic basis of some of the deadliest human diseases is far more complex than this often involving subtle changes to several genes on different chromosomes.

A recent paper published by Dr. Alessandra Cervino and colleagues in the journal Genomics describes a new method for identifying the elusive genes involved in such complex diseases. Using a mouse model system for human diseases, scientists have successfully used this new method to identify a gene called Insig2, which is directly involved in the control of blood cholesterol levels. This gene has been demonstrably linked with the causes of obesity, diabetes and atherosclerosis in mice. As Dr. Eric Schadt, of Rosetta Inpharmatics, LLC, a subsidiary of Merck & Co. remarked, "Using this new method we have identified a gene involved with high blood cholesterol in mice, and we fully expect the human equivalent to be just as significant. This opens new doors in the potential treatment or prevention of cardiovascular disease in humans."

This new method is also directly applicable to many other diseases in human beings. According to Dr. Mark S. Boguski, Editor-in-Chief of Genomics, "The potential to use this approach to address the causes of serious human diseases is enormous. This might well be a landmark publication."

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