A joint research team of Daegu Gyeongbuk Institute of Science and Technology professors Um Ji-won and Ko Jae-won of the Department of Brain Sciences reported a new genetic mutation related to intellectual disability and discovered an excitatory synaptic activation signalling mechanism related to the mutation.

Figure 1: An excitatory synaptic activation signalling mechanism related to the mutation.

Figure 1 shows thatthe discovery is expected to present a new research direction to the treatment of brain developmental disorders by coordinating the excitatory synaptic signalling activity. [1]A synapse is a special channel that transmits neural information quickly and accurately, and it controls all brain functions. Synapses are divided into excitatory synapses and inhibitory synapses.

These synapses cooperate with each other so that brain functions work normally and maintain the balance of the neural circuit network. It is known that various brain developmental diseases, mental diseases, degenerative brain diseases, etc. occur when this balance is disturbed.

This study detected various SlitTrack2 gene mutations that were not previously reported through exome sequencing in patients with brain, mental and developmental disorders and systematically analysed how these mutations affect the structure and function of the SlitTrack2 protein. In particular, the research team found that some of the mutations inhibited the excitatory synaptic neuro-transmission process by disrupting the SlitTrack2 protein functions from being properly expressed in the cell membrane.

All of the novel SlitTrack2 mutations associated with brain developmental diseases abnormally altered the expression and activity of track B receptors. Track B receptors are important proteins that work with BDNF factor to mediate synaptic development. Its association with brain developmental diseases such as autism is also well known.

The results of this study are expected to provide important clues for the development of new therapeutics for psychiatric disorders targeting the SlitTrack2-TrackB complex. [2]

Um Ji-won said, "This study is the first thesis that presents key evidences that a problem in the SlitTrack2 gene can cause X chromosome-related intellectual disability in collaboration with overseas clinical geneticists."

Ko Jae-won stated, “This suggests that the SlitTrk2-TrkB complex can be an important biomarker for related brain developmental diseases, and we are currently carrying out follow-up studies.” [3]

References:

1. https://medicalxpress.com/news/2022-08-dna-autism-schizophrenia-synaptic-adhesion.html
2. https://www.eurekalert.org/news-releases/961555
3. https://www.technologynetworks.com/genomics/news/new-genetic-mutation-linked-to-intellectual-disability-364669

Cite this article:

Sri Vasagi K (2022), Researchers Discovered a New Genetic Mutation Related to Intellectual Disability, AnaTechMaz, pp.88