Researcher identifies a key strategy to combat disease linked to autism and schizophrenia

By the time those symptoms are recognized, it’s long past the opportunity for medical intervention.


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A Virginia Tech scientist has recently made a groundbreaking discovery in the field of autism and schizophrenia research. Through extensive research, scientists have identified a narrow opportunity to address a disease closely linked with these disorders. This breakthrough has the potential to revolutionize how we approach the treatment of individuals with autism and schizophrenia

The development of the human brain initiates shortly after fertilization as an increasing number of cells interconnect to establish networks throughout the brain. The genetic code furnishes the construction plan, but at times, this plan is deficient, and some connections are not formed, resulting in malfunctioning circuits – frequently, this occurs even before the issue can be identified, let alone rectified.

DiGeorge syndrome, a genetic disorder affecting 1 in 3,000 babies, can cause multiple health problems, including autism and schizophrenia. Professor Anthony-Samuel LaMantia has identified a key factor in the genetic blueprint that leads to this disorder and a narrow window through which intervention may be possible. With a $3.4 million grant from the National Institutes of Health, LaMantia will study the possibility of utilizing this opportunity to help individuals with DiGeorge syndrome.

DiGeorge syndrome, for over 20 years, has the potential to inform new treatment strategies for autism and schizophrenia linked to the disorder. DiGeorge syndrome is one of the few genetic syndromes significantly increasing the risk of developing these disorders later in life.

By investigating the disruption of brain development caused by DiGeorge syndrome, LaMantia’s research could also shed light on how incomplete genetic instructions can lead to these disorders. As one of the few labs in the world working on this problem, LaMantia’s team deeply understands the causes of the syndrome and how the brain’s circuits are constructed.

“I think 20 years of research has provided a foundation for thinking about this disease differently in the clinic,” LaMantia said. “It’s a neurodevelopmental disorder, disrupting concrete, identifiable steps in the development of the brain. And we’re trying to now look at one of the last steps of brain development that we think is the most likely to be accessible to make adjustments without damaging other things.”

LaMantia believes the mitochondria — the power plants of cells — are central to disrupting brain development in DiGeorge syndrome.

“If you’re going to fix it, that’s probably the only viable place to fix it, and without causing other problems in the process,” LaMantia said“It’s fortunate that these are mitochondrial changes because you can support mitochondria through relatively simple and very safe means, including dietary supplements or more precisely-targeted drugs.”

However, thanks to the scientist’s innovative approach, there is new hope for individuals affected by this disease. By honing in on a specific target, the scientist has uncovered a promising solution that could significantly improve patient outcomes. While much more research is needed before this breakthrough can be translated into practical applications, it is clear that the discovery represents a major step forward in the fight against autism and schizophrenia-related disorders. The Virginia Tech scientist’s work is a testament to the power of scientific research and the potential of innovative thinking to transform lives.


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