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Genetic Tweak Alters Brain Connections and Behavior Patterns

Genetic element mini-exon B significantly contributes to the process of neurons establishing synaptic connections, as suggested by recent scientific studies.

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Genetic fragment mini-exon B unexpectedly exerts a significant influence on the development of...
Genetic fragment mini-exon B unexpectedly exerts a significant influence on the development of synapses in neurons, reveals recent study findings.

Genetic Tweak Alters Brain Connections and Behavior Patterns

Research Highlights Critical Genetic Sequence in Brain Cell Connection

A new study by the Center for Synaptic Brain Dysfunctions at the Institute for Basic Science (IBS) has identified a crucial genetic segment, mini-exon B, that plays a vital role in the formation and function of brain cells during the developmental process. This tiny piece of genetic code, consisting of just four amino acids, enables essential protein interactions for proper synaptic formation.

The researchers focused on PTPδ, a key molecule that assists in the formation of synapses, the connections between brain cells that allow them to transmit signals. While PTPδ has been connected to various neurological and psychiatric conditions like autism spectrum disorder (ASD), ADHD, OCD, and restless leg syndrome, the study sheds light on an unstudied detail: mini-exon B.

This mini-exon is created through alternative splicing, a cellular process in which specific snippets of genetic material are either included or excluded, slightly altering protein structure and function. In their investigation, the researchers discovered that mini-exon B holds surprising power in brain development and behavior.

The team genetically engineered mice to lack mini-exon B from the PTPδ gene and observed an unusually low survival rate, with less than 30% of the mice surviving after birth. This finding highlights the essential role of mini-exon B in early brain development and viability.

Mice with one copy of the gene altered survived into adulthood, but they exhibited changes in behavior, including anxiety-like tendencies and reduced mobility. Brain recordings in these mice revealed an imbalance in synaptic activity, with granule cells processing information receiving weaker excitatory input, and interneurons, responsible for keeping brain activity in check, receiving stronger excitatory signals. Both of these findings align with hallmark characteristics seen in various neurodevelopmental and psychiatric disorders.

The researchers also found that PTPδ forms a molecular complex with another protein called IL1RAP, but only in the presence of the mini-exon B segment. Without this mini-exon, PTPδ can no longer engage IL1RAP, disrupting a critical pathway for excitatory synapse development.

These interactions are cell-type specific, meaning they differ depending on the neurons involved. This level of specificity might explain why the deletion of mini-exon B affects some areas of the brain more than others.

Director KIM Eunjoon from IBS remarked, "This study underscores the profound significance of even the smallest genetic elements in tipping the balance of neural circuits. It serves as a stark reminder that errors in alternative splicing could have far-reaching consequences in brain disorders."

The findings of this research, especially since it is the first in vivo study to demonstrate the function of PTPδ's mini-exon B, may help explain the origins of several neurological and psychiatric conditions. They also emphasize the importance of studying the intricate variations in gene assembly by the cell's machinery to gain a deeper understanding of neurodevelopmental disorders.

The research was conducted in collaboration with KAIST, KBSI, KISTI, Kyungpook National University, and Yonsei University.

  1. The latest research in neuroscience news highlights a critical genetic sequence, mini-exon B, crucial for brain cell connection during development.
  2. This study conducted by the Center for Synaptic Brain Dysfunctions at IBS has shed light on mini-exon B's role in synaptic formation and function.
  3. Mini-exon B, responsible for enabling essential protein interactions for proper synaptic formation, is connected to various brain disorders, including autism spectrum disorder (ASD), ADHD, OCD, and restless leg syndrome.
  4. The absence of mini-exon B in genetically engineered mice resulted in a low survival rate, underscoring its essential role in early brain development and viability.
  5. Mice with one altered copy of the gene exhibited changes in behavior, including anxiety-like tendencies and reduced mobility, mirroring hallmark characteristics seen in neurodevelopmental and psychiatric disorders.
  6. This study reveals that mini-exon B holds surprising power in brain development and behavior, and it forms a molecular complex with IL1RAP only in its presence.
  7. The disruption in the interaction between PTPδ and IL1RAP, due to the absence of mini-exon B, may have far-reaching consequences in psychiatric disorders and mental disorders like anxiety.
  8. The research on mini-exon B provides insights into the origins of several neurological and psychiatric conditions, emphasizing the importance of studying genetics and alternative splicing in health-and-wellness, mental health, and mental-disorders research.

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