People with ASD have cellular abnormality that impairs myelin production, study reveals

People with ASD have cellular abnormality that impairs myelin production, study reveals

Prescription drug bumetanide could help treat autism. Working with mice with the same TCF4 gene mutation as people with Pitt-Hopkins, the researchers identified a genetic abnormality that disrupts the function of cells that control myelin production. These cells are called oligodendrocytes or OL for short. The researchers then explored other ASD mouse models caused by different mutations associated with autism and found consistent evidence for abnormalities in oligodendrocytes. Remarkably, in a collection of donated brain tissue from deceased people with ASD who did not suffer from Pitt-Hopkins syndrome but had more common forms of ASD, they observed the same abnormality: problems with OL cells that impair myelin production, something that is not found in brains of non-ASD patients. "It appears that in many people who suffer from ASD, their OL cells are not maturing sufficiently or functioning properly," Maher said. "This suggests they are not producing enough myelin insulation for their neurons, which could profoundly disrupt brain development and electrical communication in the brain. He noted that previous studies have shown that people with ASD can exhibit a decrease in myelin thickness in certain regions of the brain. He said recent evidence, in addition to his own suggests, that people with ASD have fewer OL cells. But Maher said that previous research had not connected the dots--that there appears to be an underlying biological process in people with ASD limiting the capacity of OL cells to produce the myelin brains need for proper development. And that deficiency could be a key source of the neurological problems seen in people with this disorder. Also, he said given the different factors that influence myelin production in OL cells, the defects in myelination could vary considerably across individual cases of ASD, corresponding to the variation in the severity of symptoms across the autism spectrum. Maher said he and his colleagues at the Lieber Institute are now testing compounds that may have the capacity to boost myelination in the brain. "Because myelination is a lifelong process it provides a unique therapeutic opportunity that we can tap into throughout the lifespan. Along these lines, we are eager to see whether enhancing myelination in these mice can improve their ASD-associated behaviors," he said. "Promising candidates could then be considered for clinical studies." Source: Lieber Institute for Brain Development Journal reference: Phan, B.N., et al. (2020) A myelin-related transcriptomic profile is shared by Pitt–Hopkins syndrome models and human autism spectrum disorder. Nature Neuroscience . doi.org/10.1038/s41593-019-0578-x .



Also in Industry News

How to decide whether or not to start treatment for prostate cancer?
How to decide whether or not to start treatment for prostate cancer?

0 Comments

How to decide whether or not to start treatment for prostate cancer?

Read More

Analysis of the SARS-CoV-2 proteome via visual tools
Analysis of the SARS-CoV-2 proteome via visual tools

0 Comments

Analysis of the SARS-CoV-2 proteome via visual tools

Read More

$65m investment increases British Patient Capital’s exposure to life sciences and health technology
$65m investment increases British Patient Capital’s exposure to life sciences and health technology

0 Comments

$65m investment increases British Patient Capital’s exposure to life sciences and health technology

Read More