New Research on Coffin-Siris Syndrome May Lead to Understanding Neuropsychiatric Disorders

Neuropsychiatric disorders can be some of the most challenging conditions to understand. Mechanically, socially, and biologically, it is often difficult to make sense of their innermost workings. Recent research, however, may shed new light on the genetic structure of these diseases. Keep reading, or review the original research here to learn more.

Scientists at the Children’s Medical Center Research Institute at UT Southwestern (CRI) have uncovered a new clue in the puzzle that is neuropsychiatric disorders. The research team has created the first ever model of an ARID1B mutation in mice. They hope that this development will allow for greater understanding of the genetic basis for neuropsychiatric illness.

ARID1B is a commonly mutated gene in patients with intellectual disabilities. It is also the target of common mutations for patients with disorders on the autism spectrum.

Scientists understand that there is a correlation at work, but causation remains a mystery. That is to say, current research does not understand how defects in the ARID1B gene might lead to clinically diagnosable symptoms.

Dr. Hao Zhu and a team of graduate students set out to learn more. The team created genetic modifications in groups of mice, so that they would carry a mutation in a copy of the ARID1B gene. The mutation the researchers introduced accurately mirrors the genetic chracteristics of Coffin-Siris syndrome.

In human patients, Coffin-Siris syndrome is characterized by developmental issues relating to speech and social activity.

It also causes intellectual disabilities, and delayed physical growth. Scientists found that the mice in the test group exhibited similar symptoms. It affected their brain development, caused muscle weakness, and increased a tendency for fear and anxiety in the mice. Mice also displayed social disabilities, exhibited repetitive behavior, and produced unusual vocalizations.

Further testing showed that the mice with mutated ARID1B genes had abnormally low levels of growth hormone and insulin-like growth factor in their blood.

Scientists treated the mice with growth hormone and found that is was effective in restoring their body size. It did not, however, seem to have any effect on the behaviors the mice exhibited.

While Coffin-Siris syndrome is less common than most, it does share the trend of being tied to ARID1B mutation. It is hoped that by further understanding this mechanism, scientists will gain a deeper understanding of more common diseases that share symptoms with Coffin-Siris syndrome.

Dr. Zhu has stated a belief that the research he and his team have undertook will provide scientists and doctors with a valuable animal model. It will allow further research and towards understanding the role of ARID1B. This in turn could provide an important tool in developing new testing, therapy, and treatments for patients with autism, intellectual challenges, and Coffin-Siris syndrome.


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