Uncovering the Significance of THOC2 Gene in Brain Disorders


New research conducted by the University of Adelaide sheds light on the crucial role of a DNA-protecting gene in the development and progression of brain disorders. The gene in question, THOC2, has been identified as essential for healthy DNA maintenance and its dysfunction has been associated with various life-threatening conditions such as neurodevelopmental disorders, certain types of cancer, and neurodegenerative diseases.

Despite the importance of THOC2 in the development and function of brain cells, the specifics of its involvement in normal brain development and related disorders have remained elusive. To gain a deeper understanding of its function, researchers at the University of Adelaide utilized gene editing technology to generate the first mammalian model focused on studying the molecular pathology of THOC2.

Dr. Rudrarup Bhattacharjee from the Adelaide Center for Epigenetics highlighted the significance of the findings, stating that the research has provided valuable insights into the role of THOC2 in maintaining healthy DNA and its impact on crucial cellular processes. The study revealed that genetic mutations compromising THOC2’s function can disrupt normal brain development, offering new possibilities for interventions aimed at protecting DNA integrity and assisting individuals with THOC2-related disorders.

Published in Nature Communications, the study was a collaborative effort involving researchers from SAHMRI, who played a pivotal role in creating the preclinical model for investigating THOC2.

THOC2-related disorders, primarily affecting males, are characterized by developmental delays and intellectual disabilities. The mouse model used in the study exhibited similar traits to those observed in human patients, such as learning and memory deficits, underscoring the relevance of the findings.

Dr. Raman Sharma, a senior co-author of the study, emphasized the consequences of compromised THOC2 function in the preclinical model, which ranged from cognitive impairments to physical abnormalities. Notably, the deletion of a specific region of the THOC2 gene led to DNA damage and affected the transcription process, ultimately resulting in cell death.

Professor Jozef Gecz, the senior author of the study and Head of Neurogenetics at the Adelaide Medical School, emphasized the potential implications of the research on healthcare, including exploring the vulnerability of certain cancer cells with reduced THOC2 levels and investigating THOC2’s role in neurodegenerative diseases.

The study’s findings not only enhance our understanding of the biological mechanisms involving THOC2 but also pave the way for future research aimed at developing targeted therapies for THOC2-related disorders and other DNA integrity-related conditions.

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