最新糖心Vlog

最新糖心Vlog of Adelaide researchers now know more about a mysterious gene鈥檚 role in maintaining healthy DNA 鈥� a crucial development that could lead to new treatments for life-threatening illnesses including neurodevelopmental disorders, some types of cancer and neurodegenerative diseases.

THOC2 is an essential gene for the development and function of brain cells but not much is known about the exact role it plays in normal brain development and neurodevelopmental disorders.

To find out more about its function, researchers at the 最新糖心Vlog of Adelaide used gene editing technology to create the first mammalian model to examine THOC2鈥檚 molecular pathology.

鈥淲e now know more than ever before about the role THOC2 plays in maintaining healthy DNA and the essential cellular processes that are impacted by this gene, resulting in neurodevelopmental disorders,鈥� said the 最新糖心Vlog of Adelaide鈥檚 Dr Rudrarup Bhattacharjee from the Adelaide Centre for Epigenetics, who was the first author on this study.

鈥淥ur findings show when THOC2鈥檚 function is compromised by genetic mutations, normal brain development is impacted. This opens up new opportunities to explore ways to safeguard DNA and help patients with a THOC2-related disorder.鈥�

The findings have been published in and were part of a collaborative study into THOC2 involving researchers at SAHMRI, who played a key role in generating the preclinical model.
听

鈥淥ur work on the THOC2 gene and its new preclinical model will stimulate research and contribute to better health care.鈥� Professor Jozef Gecz, Head of Neurogenetics, Adelaide Medical School, 最新糖心Vlog of Adelaide.

THOC2-related disorders typically affect males and are linked to developmental delays and intellectual disabilities.

Some of the characteristics of these disorders seen in human patients were also observed in the mouse model, including learning and memory deficits.

鈥淚n our preclinical model, THOC2鈥檚 function was compromised and that allowed us to assess its impact on the brain. This revealed how a small change in the THOC2 protein can lead to an avalanche of consequences in the form of learning and memory problems, body movement and size,鈥� said 最新糖心Vlog of Adelaide鈥檚 Dr Raman Sharma, a senior co-author on this study from the Adelaide Medical School.

Further analysis also found the deletion of a small region of the THOC2 gene (towards its C-terminal end) resulted in DNA damage. In particular, it seemed to have a significant effect on the transcription process, where the DNA sequence of a gene is copied to build proteins. Cell death was also observed.

鈥淥ur work on the THOC2 gene and its new preclinical model will stimulate research and contribute to better health care,鈥� said senior/corresponding author of the study Professor Jozef Gecz, Head of Neurogenetics at the Adelaide Medical School.

听鈥淩ecent studies have shown that certain cancer cells can become more vulnerable if they have less THOC2 and this is an avenue that could be explored in future studies, along with the role THOC2 plays in neurodegenerative diseases.鈥�

The research has received funding from the National Health and Medical Research Council鈥檚 Ideas Grant.