4 Oct 2022

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Rare variants in axonogenesis genes connect three families with sound–color synesthesia

Format: APA

Academic level: College

Paper type: Article

Words: 522

Pages: 1

Downloads: 0

The article seeks to find the relation between axonogenesis genes and sound-color synesthesia. Researchers investigated the neural correlates of synesthetic experiences, and the result showed a rise in functional and structural link in persons who had synesthesia when contrasted with nonsynethetes (Tilot et al., 2018, p. 3168-3173). As a result, researchers formulated a hypothesis based on the findings that cross-modal sensory experiences emerge from changes to the neural links connecting parts of the tasked with handling the interlinked signals that are sensory. Researchers further state that synesthesia takes place in neurotypical people. They also determined that synesthesia runs down if families genetically. However, researchers point out that their investigations were hindered by insufficient understanding of genetic underpinnings. Researchers analyzed synesthesia to understand the neurobiological hypothesis from a genetic view. To facilitate this, researchers studied three families who had no less than five members who had been affected with sound-color synesthesia over the past three generations which they were able to prove through a constructed test battery. WES was used by researchers whereby they discovered unique coding variants that separated the families (Tilot et al., 2018, p. 3168-3173). The researchers found that there were 11,597 variants across the three families. They used a MAF of 0.01 for pointing out variations that posed a concern. Researchers, based on their findings, later formulated a hypothesis that stated that individual variants within a family are not likely to be shared (Tilot et al., 2018, p. 3168-3173). When investigating variants, researchers used ABA and GTEx datasets on candidates. They later found out that COL4A1, ITGA2, MYO10, ROBO3, SLC9A6, and SLIT2 genes are present in the tissue brain of an adult. However, researchers acknowledge that sufficient information regarding synesthesia was not available from Human Protein Atlas and GTEx resources. They discovered that axonogenesis and synesthesia appear during the fetal and early stages in life and the primary school period respectively. Researchers then found out that genes from the candidates were expressed across the glial and neural transcriptomes which they determined by using a dataset of RNAseq of the cell kind of candidates. They formulated a hypothesis regarding autism that stated that genetic variants in people with synesthesia who are not autistic display a genetic connection to autism (Tilot et al., 2018, p. 3168-3173). Researchers, based on the results, concluded that synesthesia is a nonpathological abnormality of sensory integration which may be caused by rare genetic variants. They also suggested that early childhood is the period where idiosyncratic sensory associations observed by synesthetes develop. They insisted that there is still much more needed study and research on the field for better understanding and future studies (Tilot et al., 2018, p. 3168-3173). Researchers used data identified from three families from the CSRG database who had sound-color synthesia, the BrainSpan database, and data from ABA, GTEx, and other databases for this research. 

Researchers mention that there is a connection between synesthesia and autism because of genetic variants in people. What are the chances of having an autistic person who has no trace or links to synesthesia (Baron-Cohen et al., 2013)? Do all autistic individuals have a link to synesthesia? 

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Researchers state that they discovered that axonogenisis and synesthesia appear during the fetal and early stages in life and the primary school period respectively. Does this mean that an adult who did not develop or show any signs of synesthesia during childhood cannot be affected by synesthesia? Does the development of synesthesia begin only at childhood? 

References 

Baron-Cohen, S., Johnson, D., Asher, J., Wheelwright, S., Fisher, S. E., Gregersen, P. K., & Allison, C. (2013). Is synaesthesia more common in autism?  Molecular Autism 4 (1), 40. 

Tilot, A. K., Kucera, K. S., Vino, A., Asher, J. E., Baron-Cohen, S., & Fisher, S. E. (2018). Rare variants in axonogenesis genes connect three families with sound–color synesthesia.  Proceedings of the National Academy of Sciences 115 (12), 3168-3173. 

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StudyBounty. (2023, September 17). Rare variants in axonogenesis genes connect three families with sound–color synesthesia.
https://studybounty.com/rare-variants-in-axonogenesis-genes-connect-three-families-with-sound-color-synesthesia-article

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