December 23, 2024

Genetic Enigma Solved – Scientists Unravel Cause of Rare Neurological Disease After 25 Years of Research

By comparing DNA from affected and unaffected people from several Utah families, they found that in SCA4 patients, an area in a gene called ZFHX3 is much longer than it ought to be, including an extra-long string of repeated DNA.Brain tissue from a SCA4 client. The scientists are currently evaluating a potential treatment for SCA2 in medical trials, and the resemblances between the 2 conditions raise the possibility that the treatment might benefit patients with SCA4 as well.Finding the hereditary change that leads to SCA4 is vital to develop better treatments, Pulst says. “They can get and come tested and they can have an answer, for better or for even worse,” Figueroa says.The scientists emphasize that their discoveries would not have been possible without the generosity of SCA4 patients and their households, whose sharing of household records and biological samples permitted them to compare the DNA of affected and unaffected people.

And, until now, there was no known cause.Now, after 25 years of uncertainty, an international study led by Stefan Pulst, M.D., Dr. med., teacher and chair of neurology, and K. Pattie Figueroa, a project supervisor in neurology, both in the Spencer Fox Eccles School of Medicine at University of Utah, has conclusively determined the genetic distinction that causes SCA4, bringing answers to households and opening the door to future treatments. By comparing DNA from impacted and unaffected people from several Utah families, they found that in SCA4 patients, an area in a gene called ZFHX3 is much longer than it should be, containing an extra-long string of recurring DNA.Brain tissue from a SCA4 patient. The researchers are presently testing a potential therapy for SCA2 in clinical trials, and the resemblances in between the 2 conditions raise the possibility that the treatment may benefit patients with SCA4 as well.Finding the hereditary modification that leads to SCA4 is essential to establish much better treatments, Pulst states.”But while treatments will take a long time to develop, just understanding the cause of the illness can be extremely valuable for families impacted by SCA4, says Figueroa, the first author on the research study. “They can get and come checked and they can have an answer, for much better or for even worse,” Figueroa says.The researchers highlight that their discoveries would not have actually been possible without the kindness of SCA4 clients and their households, whose sharing of family records and biological samples allowed them to compare the DNA of affected and unaffected individuals.