Based on the literature on some twenty known trinucleotide repeat diseases and their knowledge of the mechanisms governing somatic mutation, the team has proposed a mechanism that explains the precise relations between the patient's age of onset and the number of repeats in the diseased gene in the patient's genome. Using computer simulations and mathematical analysis of the mechanism the scientists have characterized the way in which the disease progresses.
Trinucleotide hereditary diseases are known as “time bomb” diseases, as people who live with them have a predictable onset of suffering and eventual death in adulthood. These diseases are caused by an unusual genetic mutation: A three-letter piece of gene code is repeated over and over in one gene. Scientists can predict by how many times the sequence repeats in a patient's gene both the age at which the disease will appear and how quickly the disease will progress.
The basic assumption has been that the protein fragment containing the amino acid (glutamine) encoded in the repeating triplet slowly builds up in the cells until eventually reaching toxic levels. This theory, unfortunately, fails to explain some of the clinical data.
The Weizmann Institute scientists, led by Ehud Shapiro, show that the answer lies in somatic mutations – changes in the number of DNA repeats that build up in our cells throughout our lives. The longer the DNA sequence, the greater the chance of additional mutation. The scientists realized that the genes carrying the disease code might be accumulating more and more DNA repeats over time, until some critical threshold is crossed.
These findings suggest that a cure for all might be found in a drug or treatment that slows down the expansion process, if researchers are successful in using this new model.
Andrew Hyde | alfa
Warming ponds could accelerate climate change
21.02.2017 | University of Exeter
An alternative to opioids? Compound from marine snail is potent pain reliever
21.02.2017 | University of Utah
In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport
Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...
The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.
The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...
Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...
Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".
Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...
13.02.2017 | Event News
10.02.2017 | Event News
09.02.2017 | Event News
21.02.2017 | Earth Sciences
21.02.2017 | Medical Engineering
21.02.2017 | Trade Fair News