Epilepsy is the most common neurological disease found among children which causes a behaviour spell and is characterized by recurrent seizures. Epilepsy basically is a group of diseases that comprises many neurological disorders resulting in the same. It is caused by abnormal electrical impulses in brain resulting into an immensely excessive disordered discharge of cortical nerve cells of brain. Epilepsy can be characterized by brief changes in movement, sensation, or awareness resulting in a behavioral change, scientifically, termed as 'seizures'.
As we all know, DNA is the building block of life and it changes from one individual to another, that distinguishes a person from the rest of the population. However, the point that must be taken into consideration here is that most of the DNA is the same in the population, if not totally identical. The more interesting fact here is that apart from sharing of DNA among the homo sapiens, DNA sequences can be similar and matched to those of the other organisms or species. In simpler words, different species can have the different versions of the same genes or DNA sequences. This fact lets us to explore deep into the vast sea of genome and find new novelties of genes.
As in the case of epilepsy, the gene LGI2 has been recently discovered to be responsible for the same disease, playing a crucial role. The gene's discovery was made at the University of Helsinki, by a group of scientists led by Dr. Hannes Lohi. The striking point here is that this gene was first discovered in a species of dogs viz. Lagotto Romagnolo. From there, it was traced down to humans to understand the mechanisms and implications hidden beneath childhood epilepsy.
In the study, a large Lagotto pedigree of around 34 affected animals was reconstructed. The disease locus was traced down by mapping the whole genome to a 1.7 Mb region of homozygosity in chromosome 3. There, a protein-truncating mutation in the Lgi2 gene, a homologue of the human epilepsy gene LGI1 was found. It was found that Lgi2 is expressed highly in the immediate postnatal period while Lgi1 acts in the latter part. LGI1 is a selective gene that specifically acts on metalloproteinase-lacking factors; most of which are members of the ADAM family; a group of neuron receptors. The members of the ADAM family are known to play important role in synapse remodeling which is known to be important for a stable brain activity.
Moreover, it was also shown that LGI2 truncation acts towards inhibiting secretion and ADAM interaction. LGI1, however, usually acts in a totally opposite way. The epilepsy resulting from this, 'the abnormal electrical impulses' firing through brain, onset for seven weeks in the chosen species of dogs which is equal to two years in human. The relapse or remission of the epilepsy takes place again in four months in dogs which was found to be equal to seven years in humans.
As a result of concurrent experiments, it was established that LGI2 should be considered a candidate gene for the recurring childhood epilepsies and LGI2-to-LGI1 transition phenomena for the mechanisms of childhood epilepsy remission. The successive studies has enabled the researchers to understand the relapses more better. It is the relapses that are more cruel and painful than the disease itself and act as major setbacks through already existing ups and downs of lives of the patients. The better the understanding at relapses, the better the treatments can be developed.
With the knowledge of the gene LGI-2, responsible for epilepsy, several new pathways have been mapped down to understand the phenomenons better. A better and new insight has sure been gained which can be used to evaluate the chemical factors and the gene loci involved in the development of this disease, hence making the challenge to fight epilepsy, a bit easier. The enormous amount of individuals scattered all over the world, suffering from this mind-numbing disease can be assured a better day now that this discovery has been made and most probably a total cure too, provided the researchers keep going on with the same pace with their work and better results so that every time that they come out of their labs to surprise us, 'the world', with a new innovative discovery.
Thus it can be concluded that after the discovery of the gene linked to epilepsy, major principles can be postulated in the field of therapeutics. Not only can a better understanding can be ensured to be gained of epilepsy disorder and mechanisms but also improved medications and treatments can be developed in order to reach the target of curing the vast majority of people suffering from this very disease. All thanks to you, LGI2!
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