Scientists have discovered a way to restore brain cells

In what is being called a "genuine scientific breakthrough," researchers have discovered a potential treatment that can restore brain cells in people with certain neurodevelopmental disorders.

In a proof-of-concept study, researchers demonstrated the effectiveness of the treatment for Timothy syndrome, an often life-threatening and rare genetic disorder that affects a wide range of bodily systems, leading to severe cardiac, neurological and psychiatric symptoms. Children with this disorder rarely survive to late adolescence; they suffer from severe heart malfunction and lifelong brain disorders including autism, epilepsy and schizophrenia. The disorder is caused by a mutation in the gene coding for controlling calcium channels, which are pores in the cell critical for cellular communication.

According to the study, supported by the National Institutes of Health and published in the journal Nature, the treatment restored typical cellular function in 3D structures created from cells of people with Timothy syndrome -- known as organoids -- which can mimic the function of cells in the body.

Researchers say these results could serve as the foundation for new treatment approaches for the disorder.

"Not only do these findings offer a potential road map to treat Timothy syndrome, but research into this condition also offers broader insights into other rare genetic conditions and mental disorders," Joshua Gordon, director of the National Institute of Mental Health, said in a statement.

For the study, Sergiu Pasca and colleagues at Stanford University collected cells from three people with Timothy syndrome and three people without, and then examined a specific region of a gene that harbors the mutation. Researchers tested whether they could use small pieces of genetic material that bind to gene products and promote the production of a protein not carrying the mutation -- known as antisense oligonucleotides (ASOs) -- to fix the cellular defects and restore normal calcium channel functioning.

In the lab, researchers applied the ASOs to human brain tissue structures grown from human cells, known as organoids, and tissue structures formed through the integration of multiple cell types, known as assembloids. They also analyzed organoids transplanted into the brains of rats. All of the methods were created using cells from people with Timothy syndrome.

According to the study, applying the ASOs restored normal functioning in the cells, and the therapy's effects lasted at least 90 days.

"Our study showed that we can correct cellular deficits associated with Timothy syndrome," said Dr. Pasca. "We are now actively working towards translating these findings into the clinic, bringing hope that one day we may have an effective treatment for this devastating neurodevelopmental disorder."

Pasca said the calcium channel that is mutated in Timothy syndrome is "the hub" of several neuropsychiatric diseases, including schizophrenia and bipolar disorder, and that the therapy may have broad application in a number of widespread and troubling psychiatric conditions, Stanford Medicine reported.

Pasca is now searching for carriers of the genetic defect in preparation for the pursuit of a clinical trial at Stanford Medicine to test the safety and potential of ASOs in mitigating the pathological features of Timothy syndrome.

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