Study identifies gene that causes SCA4

A multinational research team led by University of Utah researchers has identified the gene that causes a rare type of late-onset ataxia called Spinocerebellar Ataxia Type-4 (SCA4). This discovery paves the way for future treatments for the condition.  

The results of the study, led by Professor Stefan Pulst at University of Utah, were published in the prestigious journal Nature Genetics. 

Using a new genome-sequencing technology known as long-read sequencing, the team were able to identify the gene that causes SCA4. The researchers found an expansion in the genetic sequence coding for a protein called ZFHX3. The sequences of genes coding for proteins are made up of instructions in the form of combinations of letters. In SCA4, the team found that a combination of three letters ‘GGC’ is repeated too many times in the instructions for ZFHX3. 

Isolated human cells that show too many GGC repeats in the gene sequence for ZFHX3 show increased levels of ZFHX3 protein aggregates. The study found that the build-up of waste ZFHX3 proteins are not cleared from cells in SCA4.  

Having a specific genetic test for SCA4 can be greatly valuable for families affected by SCA4 in areas such as family planning. Full paper found here.