deCODE genetics, Inc. Discovers First Genetic Variant Conferring Increased Risk of Essential Tremor
REYKJAVIK, Iceland, February 2 /PRNewswire-FirstCall/ --
Scientists from deCODE genetics today report the discovery of the first variation in the sequence of the human genome ever shown to confer increased risk of essential tremor. The single-letter variant (or SNP) was discovered by analyzing the genomes of a total of more than 16,000 patients and healthy subjects from Iceland, Austria, Germany and the United States. It is located on the long arm of chromosome 15 in the LINGO1 gene, which encodes a protein that has been shown to affect how neurons are formed and signal each other. This makes the finding even more significant, for although essential tremor is a relatively common neurological condition, to date little has been known about the biology behind it. Variations in LINGO1 may contribute to neuronal degeneration and to inhibit normal processes of neuronal repair that may be involved in essential tremor, and the protein itself may provide a potentially effective target for the development of drugs to treat the condition. The paper, "Variant in the sequence of the LINGO1 gene confers risk of essential tremor," is published today in the online edition of Nature Genetics, at http://www.nature.com/ng.
"This discovery is an encouraging direct hit. It offers a clear example of how genetics can both increase our understanding of what a disease is and directly point the way to the development of new therapies. This SNP is in a gene involved in many of the processes that one would expect to be perturbed in patients with essential tremor. Because LINGO1 has be shown to have a negative impact on neuronal development and survival, inhibiting it with a small molecule drug may provide an effective approach for developing a treatment for the severe forms of essential tremor. We are very excited to have taken the first step in this process," said Kari Stefansson, CEO of deCODE.
Essential tremor is characterized by involuntary trembling of the arms and hands, and in many cases of the head and voice as well. It is frequently mild enough that many patients do not seek any medical attention, though in severe cases it can impair eating, drinking, writing and other daily activities, and some patients with the most debilitating symptoms will seek surgery to control it. It appears in some individuals when they are in their twenties and thirties, but becomes more common in later life and is believed to affect as many as 1 in 7 people over the age of 65. Approximately 20% of the general population carry one copy of the at-risk version of the SNP and 5% carry two copies, corresponding to a roughly 55% and 140% higher likelihood of developing the condition than individuals who carry no copies of the risk variant.
deCODE and its collaborators at Vienna, Tubingen and Emory universities would like to thank the individuals who took part in this study.
About decode
deCODE is a bio-pharmaceutical company developing drugs and DNA-based tests to improve the treatment, diagnosis and prevention of common diseases. Its lead therapeutic programs, which leverage the company's expertise in chemistry and structural biology, include DG041, an antiplatelet compound being developed for the prevention of arterial thrombosis; DG051 and DG031, compounds targeting the leukotriene pathway for the prevention of heart attack; and DG071 and a platform for other PDE4 modulators with therapeutic applications in Alzheimer's disease and other conditions. deCODE is a global leader in human genetics, and has identified key variations in the genome (SNPs) conferring increased risk of major public health challenges from cardiovascular disease to cancer. Based upon these discoveries deCODE has brought to market a growing range of DNA-based tests for gauging risk and empowering prevention of common diseases. Through its CLIA-registered laboratory, deCODE is offers deCODE T2(TM) for type 2 diabetes; deCODE AF(TM) for atrial fibrillation and stroke; deCODE MI(TM) for heart attack; deCODE ProstateCancer(TM) for prostate cancer; deCODE Glaucoma(TM) for a major type of glaucoma; and deCODE BreastCancer(TM), for the common forms of breast cancer. deCODE is delivering on the promise of the new genetics (SM). Visit us on the web at http://www.decode.com; on our diagnostics site at http://www.decodediagnostics.com; for our pioneering personal genome analysis service and new Cardio and Cancer scans, integrating the genetic variants included in these tests and those linked to another twenty common diseases, at http://www.decodeme.com; and on our blog at http://www.decodeyou.com.
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