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A new study could provide an explanation for cases of epilepsy that currently have no known cause.
Epilepsy is a condition that disrupts the normal pattern of electrical activity in the brain, often leading to seizures. In many cases, the underlying cause is unknown, according to the National Institute of Neurological Disorders and Stroke.
to study in it Molecular NeurobiologyResearchers looked at a gene in mice that affects the formation and function of connections between muscle and motor neurons that control body movement.
They found that when a protein called TMEM184B, which is found on the cell membranes of neurons, is absent, the neurons appear damaged and are removed too often, says lead author Tiffany Cho, Martha Bhattacharya at the university. was a research technician in the laboratory. Arizona.
The researchers wondered how seemingly damaged neurons might impair a neuron’s ability to properly fire muscles. So Cho and his colleagues studied a related protein in fruit flies called TMEP that is easier to study at the cellular level.
“What we found in fruit flies was that neurons appear to be more receptive to an individual stimulus,” says Bhattacharya, assistant professor in the Department of Neuroscience and director of the Bhattacharya Lab. neurodegenerative disease.
This suggests that Tmep – and by extension TMEM184B – are responsible for controlling the excitability of neurons.
“This is related to what happens in patients with epilepsy, so we think we may have identified a gene involved in some forms of epilepsy for which there is no other explanation,” says Bhattacharya.
The researchers believe that Tmep could change the behavior of ion channels, which control the amount of calcium in the cell and thus the neuron’s ability to fire.
“When we saw cellular changes in fruit flies, it really got us thinking if it also controls the balance of ions, for example charged particles like calcium in neurons, because it’s a normal thing that accompanies epilepsy.” Until this article, nobody had investigated whether this protein regulates ion levels,” says Bhattacharya.
Bhattacharya is also linked to doctors who have done gene sequencing of mutations in the TMEM184B protein in humans.
“One of the things we want to find out is whether these mutations, particularly the ones where patients have epilepsy or something like that, are causing this overstimulation,” says Bhattacharya. .
“We can do this in the fruit fly model because we have ways to measure electrical activity, and that’s what we did in the paper. We’re trying to insert these human mutations into the fly genome and see if they cause similar changes in neuron excitability. And if it does, we want to know why.”
The researchers also observed that without Tmep, fly larvae move much more slowly than other flies when crawling across a slab. They are therefore curious to see whether the protein could play a role not only in diseases such as epilepsy but also in other neuromuscular diseases such as amyotrophic lateral sclerosis or ALS.
Source: University of Arizona