Autism-Linked Gene Mutation Reversed Using Lab-Grown Brain Experiments

Autism, a developmental disorder, can impair a person’s ability to communicate and interact. It affects the nervous system and affects a person’s cognitive, social, emotional and physical well-being. To understand the symptom disorder in detail, a team of researchers studied lab-grown brains grown from human cells and uncovered changes in neurological structure that are associated with the autism spectrum disorder (ASD) known as Pitt-Hopkins syndrome. may be behind. The team was also able to recover lost genetic functions using two different therapy strategies. With the findings, the researchers hope to find a way for treatments that can give people with autism a way to improve their lives.

Pitt-Hopkins syndrome (PTHS) stems from mutations in a DNA management gene called transcription factor 4 (TCF4). A complex condition that presents with a range of severity, it often has severe effects on motor skills and sensory integration. Changes in the TCF4 gene can also lead to other forms of autism and neurological conditions including schizophrenia.

Researchers from the University of California San Diego (UC San Diego) and the University of Campinas in Spain studied genes in an environment as close to a developing brain as they could get morally. They used skin cells taken from volunteers with confirmed Pitt-Hopkins syndrome and reprogrammed them into stem cells, which formed the basis of a lab-grown brain-like mass, a simplified version of a real brain.

The researchers then studied the progression of the tissues and compared them to tissues with the more specific TCF4 gene. UC San Diego senior study author Alison R. “Even without a microscope, you can tell which part of the brain the mutation occurred in,” Muotri said. said in a statement.

findings were recently published In the journal Nature Communications.

According to the researchers, TCF4-mutated organoids were significantly smaller than normal organoids, and many of the cells were neural progenitors rather than neurons. This indicates that there were fewer neurons in the cortex.

The researchers found that they could return at least some neural diversity and electrical activity to the organoids’ cortical regions by artificially supporting specific types of signaling occurring in the cell membrane. Genetically correcting the TCF4 mutation in tissues also reversed the effects of the mutation.


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