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Aphasia is a language disorder that affects a person's ability to communicate effectively. It can result from various causes, including brain injury, stroke, or neurodegenerative diseases.

Donna Jean Coquilla.  Octber,  2023

Recent research has shown that there may be a genetic component to aphasia, with certain genes and target proteins being implicated in its development.

One study by Mesulam et al. (2017) found a strong correlation between the semantic variant of primary progressive aphasia (PPA) and a type of frontotemporal lobar degeneration (FTLD) that is linked to the presence of abnormal deposits of TAR DNA-binding protein 43 (TDP-43). TDP-43 is an RNA-binding protein with a wide range of targets. This suggests that abnormalities in TDP-43 may contribute to the development of aphasia in individuals with PPA.

Another study by Vernes et al. (2008) investigated the FOXP2 gene, which has been implicated in language development disorders. However, the study found that mutation of FOXP2 itself is unlikely to be a major risk factor for common language impairments. This suggests that while FOXP2 may play a role in specific language disorders, it may not be a significant factor in the development of aphasia.

The FOXP2 gene was also mentioned in a review article by (Bishop, 2013), which discussed cerebral asymmetry and language development. The article highlighted the role of FOXP2 in neuronal plasticity and its association with language development disorders. This suggests that FOXP2 may be involved in the development of aphasia, although further research is needed to fully understand its role.

In a systematic review by (Kessi et al., 2018), several genes were identified as being associated with the electrical status epilepticus during slow wave sleep (ESESS), which is part of the epilepsy-aphasia spectrum. These genes include SCN2A, KCNQ2, KCNA2, GRIN2A, CNKSR2, SLC6A1, and KCNB1. While this study focused on epilepsy-aphasia spectrum disorders rather than aphasia specifically, it provides insight into the genetic factors that may contribute to language impairments.

A twin study by et al. Bishop et al. (1996) investigated nonword repetition as a behavioral marker for inherited language impairment. The study found that nonword repetition abilities were highly heritable and may serve as a marker for genetic language impairments. While this study did not specifically focus on aphasia, it suggests that genetic factors may play a role in language disorders, including aphasia.

Overall, these studies suggest that there may be a genetic component to the development of aphasia. Abnormalities in genes such as FOXP2 and TDP-43, as well as other genes associated with language impairments, may contribute to the development of aphasia. Further research is needed to fully understand the genetic mechanisms underlying aphasia and to develop targeted treatments based on these findings.

References:
Bishop, D. (2013). Cerebral asymmetry and language development: cause, correlate, or consequence?. Science, 340(6138). https://doi.org/10.1126/science.1230531
Bishop, D., North, T., & Donlan, C. (1996). Nonword repetition as a behavioural marker for inherited language impairment: evidence from a twin study. Journal of Child Psychology and Psychiatry, 37(4), 391-403. https://doi.org/10.1111/j.1469-7610.1996.tb01420.x
Kessi, M., Peng, J., Yang, L., Xiong, J., Duan, H., Pang, n., … & Yin, F. (2018). Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review. BMC Genetics, 19(1). https://doi.org/10.1186/s12863-018-0628-5
Mesulam, M., Dickerson, B., Sherman, J., Hochberg, D., Gonzalez, R., Johnson, K., … & Frosch, M. (2017). Case 1-2017. New England Journal of Medicine, 376(2), 158-167. https://doi.org/10.1056/nejmcpc1613459
Vernes, S., Newbury, D., Abrahams, B., Winchester, L., Nicod, J., Groszer, M., … & Fisher, S. (2008). A functional genetic link between distinct developmental language disorders. New England Journal of Medicine, 359(22), 2337-2345. https://doi.org/10.1056/nejmoa0802828