Post by Admin on Feb 14, 2023 20:31:45 GMT
Scientists are reporting a breakthrough discovery: A $3-per-pill epilepsy drug may be used to “switch off” autism symptoms in mice, according to a new peer-reviewed study published Tuesday in Molecular Psychiatry journal.
Autism spectrum disorder is a complex developmental condition that impacts how an estimated 5.4 million (2.2%) adults — and one in 44 children — in the United States perceives and socializes with others. It is often accompanied by abnormalities such as epilepsy or hyperactivity, according to Centers for Disease Control and Prevention data.
A team of experts at Germany’s Hector Institute for Translational Brain Research found that the medication lamotrigine — an anti-seizure drug first approved for use in the US in 1994 — was able to curb behavioral and social problems linked to the disorder.
Now, their findings are being hyped as the closest thing yet to a potential cure for humans.
“Apparently, drug treatment in adulthood can alleviate brain cell dysfunction and thus counteract the behavioral abnormalities typical of autism,” lead researcher and cellular biologist Moritz Mall said in a statement. “[This occurs] even after the absence of MYT1L has already impaired brain development during the developmental phase of the organism.”
Lamotrigine, which is sold under the brand name Lamictal, among others, is a medication used to treat epilepsy and stabilize mood in those who suffer from bipolar disorder.
The drug, which typically sells for just under $3 per pill, works by reversing changes to brain cells caused by a genetic mutation.
Scientists have spent years intensively searching for the molecular abnormalities that contribute to ASD and have identified MYT1L protein as one that plays a role in various neuronal diseases.
The protein is a so-called transcription factor produced by almost all the nerve cells in the body that decides which genes are or or not active in the cell. It also “protects the identity of nerve cells by suppressing other developmental pathways that program a cell towards muscle or connective tissue.”
Mutations of the protein have previously been linked to other neurological diseases and brain malformations.
To test impact of the protein on autism symptoms, researchers at HITBR genetically “switched off” MYT1L in mice and human nerve cells. They found that this led to electrophysiological hyperactivation in the mouse and human neurons impairing nerve function.
The mice lacking MYT1L suffered from brain abnormalities and showed several behavioral changes typical to ASD, such as social deficits or hyperactivity.
Researchers noted that the most “striking” reaction was the discovery that the MYT1L-deficient neurons produced extra sodium channels that are typically restricted to cells in the heart muscle.
The transcription factor MYT1L normally protects the molecular identity of nerve cells. If it is genetically switched off in human nerve cells or in mice, the functional changes and symptoms typical of autism occur.
A drug that blocks sodium channels in the cell membrane can reverse the consequences of MYT1L failure and alleviate the functional and behavioral abnormalities in mice.
What was particularly striking about the MYT1L-deficient neurons: They produced an excess of a sodium channels that are normally mainly restricted to the heart muscle cells. These pore-shaped proteins allow sodium ions to pass through the cell membrane and are thus crucial for electrical conductivity and thus also for the functioning of the cells. If a nerve cell produces too many of these channel proteins, electrophysiological hyperactivation can be the result.
In clinical medicine, drugs that block sodium channels have been used for a long time. These include the agent lamotrigine, which is supposed to prevent epileptic seizures. When MYT1L-deficient nerve cells were treated with lamotrigine, their electrophysiological activity returned to normal. In mice, the drug was even able to curb ASD-associated behaviors such as hyperactivity.
“Apparently, drug treatment in adulthood can alleviate brain cell dysfunction and thus counteract the behavioral abnormalities typical of autism—even after the absence of MYT1L has already impaired brain development during the developmental phase of the organism,” explains Moritz Mall.
Autism spectrum disorder is a complex developmental condition that impacts how an estimated 5.4 million (2.2%) adults — and one in 44 children — in the United States perceives and socializes with others. It is often accompanied by abnormalities such as epilepsy or hyperactivity, according to Centers for Disease Control and Prevention data.
A team of experts at Germany’s Hector Institute for Translational Brain Research found that the medication lamotrigine — an anti-seizure drug first approved for use in the US in 1994 — was able to curb behavioral and social problems linked to the disorder.
Now, their findings are being hyped as the closest thing yet to a potential cure for humans.
“Apparently, drug treatment in adulthood can alleviate brain cell dysfunction and thus counteract the behavioral abnormalities typical of autism,” lead researcher and cellular biologist Moritz Mall said in a statement. “[This occurs] even after the absence of MYT1L has already impaired brain development during the developmental phase of the organism.”
Lamotrigine, which is sold under the brand name Lamictal, among others, is a medication used to treat epilepsy and stabilize mood in those who suffer from bipolar disorder.
The drug, which typically sells for just under $3 per pill, works by reversing changes to brain cells caused by a genetic mutation.
Scientists have spent years intensively searching for the molecular abnormalities that contribute to ASD and have identified MYT1L protein as one that plays a role in various neuronal diseases.
The protein is a so-called transcription factor produced by almost all the nerve cells in the body that decides which genes are or or not active in the cell. It also “protects the identity of nerve cells by suppressing other developmental pathways that program a cell towards muscle or connective tissue.”
Mutations of the protein have previously been linked to other neurological diseases and brain malformations.
To test impact of the protein on autism symptoms, researchers at HITBR genetically “switched off” MYT1L in mice and human nerve cells. They found that this led to electrophysiological hyperactivation in the mouse and human neurons impairing nerve function.
The mice lacking MYT1L suffered from brain abnormalities and showed several behavioral changes typical to ASD, such as social deficits or hyperactivity.
Researchers noted that the most “striking” reaction was the discovery that the MYT1L-deficient neurons produced extra sodium channels that are typically restricted to cells in the heart muscle.
The transcription factor MYT1L normally protects the molecular identity of nerve cells. If it is genetically switched off in human nerve cells or in mice, the functional changes and symptoms typical of autism occur.
A drug that blocks sodium channels in the cell membrane can reverse the consequences of MYT1L failure and alleviate the functional and behavioral abnormalities in mice.
What was particularly striking about the MYT1L-deficient neurons: They produced an excess of a sodium channels that are normally mainly restricted to the heart muscle cells. These pore-shaped proteins allow sodium ions to pass through the cell membrane and are thus crucial for electrical conductivity and thus also for the functioning of the cells. If a nerve cell produces too many of these channel proteins, electrophysiological hyperactivation can be the result.
In clinical medicine, drugs that block sodium channels have been used for a long time. These include the agent lamotrigine, which is supposed to prevent epileptic seizures. When MYT1L-deficient nerve cells were treated with lamotrigine, their electrophysiological activity returned to normal. In mice, the drug was even able to curb ASD-associated behaviors such as hyperactivity.
“Apparently, drug treatment in adulthood can alleviate brain cell dysfunction and thus counteract the behavioral abnormalities typical of autism—even after the absence of MYT1L has already impaired brain development during the developmental phase of the organism,” explains Moritz Mall.