Scientists have identified a new genetic cause of epilepsy

December 20, 2019 / BIOON / -- two articles published in nature Communications In the previous research report, scientists from Walter and Eliza Research Institute and other institutions in Australia found that two new gene mutations may induce a rare epilepsy The relevant research has made a great contribution to the efforts of global scientists for decades At the same time, the researchers also traced the origin of a gene mutation, that is, a gene that existed more than 5000 years ago and could carry out spontaneous mutation The researchers developed a new technology, which can detect special mutations in samples (even small sample groups) called "repetitive expansion", and also track the origin of these mutation ancestors Photo source: cc0 public domain repetitive problem family adult myoclonic epilepsy Epilepsy) is a rare form of epilepsy, which has family heredity, and usually starts at the age of 20 or 30, usually caused by a major gene mutation This means that, even though it is rare in the general population, the children of the parents with the disease have a 50 / 50 probability of inheriting the disease Fame has many subtypes, namely, fame1, fame2, Fame3 and fame4 Researchers have made more than 20 years of global efforts to find the genetic causes of these epilepsy Now researchers find that mutations in stard7 and march6 will induce fame2 and Fame3 respectively Gene mutation is an unusual type of duplication, which is often directly related to the development of nervous system diseases, including Huntington's disease, ataxia, autism and fame Clarifying the genetic causes of these disorders may help researchers diagnose patients with fame and other neurological disorders through repetitive expansion, said researcher rafehi Genetic diagnosis is very important for patients, because it can give the diagnosis results and help to develop potential treatment For the first time, families suspected of having fame can be referred for testing and have a high chance of obtaining a life-changing and definitive genetic diagnosis, the researchers said Decades of mystery now researchers have developed highly specific Bioinformatics Tools to identify this repetitive expansion may be able to make them pioneers in the study of this rare disease; researchers Bennett said that global research has spent more than 20 years in Australia and global families looking for gene mutations that induce fame In the past research, researchers have identified the genetics of fame At the same time, it is found that the disease is caused by repetitive extension It is very difficult to detect the repetitive extension in DNA Therefore, researchers developed an expanded short tandem repeat (exstra) It is very important to use the tool of algorithm to find the repetitive expansion in the whole genome, even for small databases Because the standard analysis method can not detect the repetitive expansion in DNA, it is often ignored as the cause of disease Researchers can use exstra tools to identify the mutated genes in patients with familial fame Bennett said many patients often wait many years to know their causes, even if they have offspring Identifying genes related to fame may be very important for understanding the pathogenesis of the disease Based on the results of this study, researchers may eventually be expected to develop diagnosis and treatment methods for patients with fame Rafehi, an old problem researcher, said the software we developed could help researchers track the inheritance of the march6 mutation Family tree, by comparing the DNA sequence around the mutation, we found that all patients with Fame3 subtype carry the same march6 mutation, which indicates that they may be distant relatives Now researchers can infer the age of the march6 mutation, and Fame3 may have started from a single spontaneous mutation in the European population before 253 generations, that is, about 5000 years ago The researchers speculate that the age of the mutation may not be just a curious question, but also provide important information about the disease and its transmission patterns The results of this study show that the mutation of march6 gene may not be common, and it is unlikely to occur independently; Fame3 may be limited to the European population, while other forms such as fame1 are unique to the Asian population; at present, researchers have released a website, which can help scientists around the world to use the algorithms developed by researchers to study the genes of interest So as to help discover more causes and transmission mechanisms of genetic diseases Reference materials: [1] new genetic cause of epilepsy found by Walter and Eliza Hall Institute of medical research [2] Rahel T Florian, Florian Kraft, Elsa LEIT ã o, et al Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 ， Nature Communications (2019) DOI： 10.1038/s41467-019-12763-9 【3】Mark A Corbett et al Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 ， Nature Communications (2019) DOI： 10.1038/s41467-019-12671-y