deCODE Discovers First Genetic Variant Conferring Increased Risk of Essential Tremor
News Feb 03, 2009
Scientists from deCODE genetics 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 sequnce of the LINGO1 gene confers risk of essential tremor,” is now published in the online edition of Nature Genetics.
“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, inibiting 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 exicited to have taken the first step in this process,” said Kari Stefansson, CEO of deCODE.
deCODE and its collaborators at Vienna, Tubingen and Emory universities would like to thank the individuals who took part in this study.
Gene Editing Technology May Improve Accuracy of Predicting Heart Disease RiskNews
Scientists may now be able to predict whether carrying a specific genetic variant increases a person’s risk for disease using gene editing and stem cell technologies.READ MORE
Genetic Discovery Helps Determine the Difference Between Aggressive & Benign Bone TumorsNews
The first genetic marker for the bone tumor, osteoblastoma, has been discovered. Whole-genome and transcriptome sequencing of human bone tumors revealed that a genetic change that affects the transcription factor, FOS, is a hallmark mutation of osteoblastoma. The results will help clinicians correctly distinguish benign osteoblastoma tumors from aggressive osteosarcoma tumors and direct the correct treatment.READ MORE