Researchers at the University of Utah have identified the genetic cause of spinocerebellar ataxia 4 , a progressive neurological disorder, by finding a mutation in the ZFHX3 gene. This breakthrough offers hope for developing treatments and enables genetic testing for affected families, aiding in important life decisions.
To pinpoint the change that causes SCA4, Figueroa and Pulst, along with the rest of the research team, used a recently developed advanced sequencing technology. By comparingfrom affected and unaffected people from several Utah families, they found that in SCA4 patients, a section in a gene calledBrain tissue from a SCA4 patient. Blue marks cell DNA and red marks a protein that increases when protein recycling is disrupted.
Finding the genetic change that leads to SCA4 is essential to develop better treatments, Pulst says. “The only step to really improve the life of patients with inherited disease is to find out what the primary cause is. We now can attack the effects of this mutation potentially at multiple levels.”
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