Next Generation Sequencing Yields a Big Find for Epilepsy Researchers
New tools make for new findings, and sometimes they are profound. An example of a new tool is NGS. Next generation sequencing is one of the factors driving molecular biology forward at an incredible pace. NGS, as it’s called, comes in different flavors. The common link is that most flavors of NGS are incredibly fast and more accurate when compared to the "old" version. The new methods therefore can provide a faster, deeper and more accurate look into more parts of the genome than did the "old fashioned" sequencing that accomplished the Human Genome Project. (The old version is known as Sanger sequencing and debuted around 1977. The Sanger technique involved running DNA through gels at relatively glacial paces – my sister used to do do some of this work way back in the 1980s).
A new example of a profound outcome is the use of NGS to figure out that a form of epilepsy arrives from a mutation of a specific gene that regulates the brain’s use of potassium. Specifically, ScienceDaily brings word that the problem lies with a gene called CNTN2. The source flaw was found by comparing genomes of "a particular Egyptian family, in which five sick children were born from the marriage of one healthy cousin to another healthy cousin." The five children suffered from a specific epilepsy syndrome, in which different types of epileptic attacks occur. All five of the genomes were compared and a common flaw was found.
A point for lawyers? Note the sudden new knowledge. Imagine the consequences if molecular biology shows that your client’s product or process is part of a process that mutates the CNTN2 gene. That’s probably not going to happen here because the mutation was on both sides of the family. But, these days, new findings can emerge that fast – no need to wait for epidemiology.
Set out below are further specifics from the article:
"20,000 to 25,000 genes, including all the "protein coding" ones, were sequenced for this. When this was done a mutation was found in the CNTN2 gene. CNTN2 undertakes an important function in the anchoring of potassium channels to the synapses. The mutation makes it no longer possible to generate this protein and, as a consequence, the potassium channels no longer remain affixed to the synapses. The researchers suspect that the epilepsy in this family is triggered by the altered function of the potassium channels.
This discovery, which has now been published in the top journal Brain, is providing the stimulus for further research to investigate this particular gene in other epilepsy patients as well. Approximately one percent of the population suffers from active epilepsy in which regular epileptic fits occur. The danger of suffering from an epileptic fit once in your life lies at approximately four to five percent. Genetic factors play a major part in the occurrence of epilepsies."