Progressive Supranuclear Palsy (PSP) is a rare and degenerative brain disorder that affects movement, balance, and vision. Although the exact cause of PSP is not fully understood, genetic factors have been implicated in some cases.
Genome sequencing can be used to identify genetic variations that may be associated with PSP. By sequencing the genome of an individual with PSP, researchers can look for variations in genes known to be involved in brain function, movement disorders, or other related pathways. Identifying such variations may help to uncover the genetic basis of the disease and could eventually lead to the development of new treatments.
Recent studies have used genome sequencing to identify potential genetic risk factors for PSP. For example, one study found that variations in the MAPT gene, which codes for the tau protein, are associated with an increased risk of developing PSP. Other studies have identified variations in other genes, such as the STX6 gene, that may also play a role in the disease.
However, it is important to note that genetic factors are only one piece of the puzzle when it comes to PSP. Other factors, such as environmental exposures or lifestyle choices, may also contribute to the development and progression of the disease. Therefore, further research is needed to fully understand the complex interplay of genetic and non-genetic factors in PSP.
- Hoglinger, G. U., et al. (2017). Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature Genetics, 49(3), 393–399. https://doi.org/10.1038/ng.3779
- Allen, M., et al. (2018). Genome-wide association study of peripheral neuropathy with Dementia in a subset of the Mayo Clinic Study of Aging. Journal of Alzheimer’s Disease, 62(1), 209–216. https://doi.org/10.3233/JAD-170584