Reykjavik, ICELAND, August 25, 1997 - deCODE Genetics today announced the publication of a scientific paper in the current issue of Nature Genetics (vol. 17) that describes the localization of a gene, FET1, responsible for familial essential tremor (FET) to human chromosome 3.
Essential tremor is a disease characterized by shakiness of the hands and arms and, occasionally, the head and voice as well. The disease affects an estimated 5-10 percent of the elderly population, making it more common than Parkinson's disease, a disease that produces a different type of tremor in affected individuals. While essential tremor is most prevalent in the elderly, disease onset usually occurs in early adulthood and can also begin during adolescence.
The paper, titled "Mapping of a Familial Essential Tremor Gene, FET1, to Chromosome 3q13" describes the use of the Icelandic population to identify a gene for essential tremor and to localize this gene to chromosome 3. This research was carried out by scientists at deCODE genetics, University of Chicago, The Municipal Hospital of Reykjavik and National Hospital of Iceland.
"Essential tremor has a significant negative impact on the quality of life of affected patients," said Dr. Kari Stefansson, senior author of the paper and President and Chief Executive Officer of deCODE. "The tremor leads to difficulty in performing simple tasks such as writing, drinking from a glass without spilling and buttoning clothes, and is a cause of early retirement, job changes and social embarrassment. There are no drugs currently available to treat symptoms or slow the progression of the disease, leaving brain surgery or electrode implantation as the only treatment options."
Dr. Stefansson continued: "The disease is passed from generation to generation in affected families, but no group has been able to locate a causative gene until now. At deCODE, we look for genes known to cause specific diseases by using the Icelandic population as our study system. Many diseases have multiple genetic components, and it is difficult to find a specific gene if you are looking for it in people who are genetically dissimilar and may carry more than one gene for the disease in question. However, the present day population of Iceland descended from the Vikings who settled the island 1100 years ago, and there is very little genetic variation among modern Icelanders. This limited variation makes disease-related genes easier to find, as it is likely that all affected individuals will carry the same gene. This genetically similar population is the basis of all of deCODE's gene identification programs."
In addition to its genetic similarity, the Icelandic population offers additional features which make it uniquely suited for genetic research. These include:
- Computer database containing the genealogy of the entire nation over several centuries.
- Excellent accessible healthcare which allows for tracking of disease progression and resource utilization.
- Well-educated and cooperative people who are willing to participate in genetic studies.
In addition to being a first step towards providing better understanding and treatment for essential tremor, the localization of FET1 may also bring an improved understanding and new treatment options for Parkinson's disease.
"Previous studies have shown an association between essential tremor and Parkinson's and it is possible that the two diseases are caused by different abnormalities in the same gene," said Dr. Stefansson. "Should that be the case, further analysis of FET1 will provide key information for both these diseases. While we are excited to have identified the location of such a potentially important gene, we consider this study to be the beginning of the familial essential tremor story, not the end. deCODE's efforts to hone in on the essential tremor gene itself are already underway and we anticipate that the identification of the gene and the determination of its role in disease will provide enhanced understanding of the disease mechanism. Ultimately, we hope that this will lead to improved therapies for FET, and possibly Parkinson's and other related diseases."
deCODE genetics, based in Reykjavik, Iceland, is a population-based genomics company founded on the assumption that the scarce resource in human genetics is one that can yield the genetics of common diseases. The mission of deCODE genetics is to use human genomics to acquire new knowledge about health and disease and work with pharmaceutical companies and other institutions of the healthcare industry utilizing this knowledge to develop novel methods to identify, treat and prevent diseases.