the Spinocerebellar ataxia It is a group of Hereditary and heterogeneous neurological diseases which leads to Defects in coordination of movements because of Cerebellar degeneration And its connections. There are several types of spinocerebellar ataxia, including, Spinocerebellar ataxia type 4 (SKA 4). Although rare, it can seriously affect patients and their families. The first signs of the disease, such as difficulty walking and maintaining balance, often appear between the ages of 40 and 50, but it can begin as early as late adolescence. The disease develops gradually, and symptoms worsen over time. There is currently no known treatment.
Recently, a team of American researchers from the University of Utah identified Genetic mutation responsible for CCA4 After several years of research. This discovery was published in a prestigious journal Nature geneticsIt is essential for the development of future treatments. Researchers have shown that the causative mutation CCA4 It is found in a gene called ZFHX3. This mutation corresponds to an abnormally long section of DNA.
The researchers used the technology to Sequence She applied to compare the DNA of affected and unaffected people from several American families. And they discovered that Genetic mutation Disrupts the normal functioning of nerve cells by blocking Protein recycling process Driving to Accumulation of misfolded proteins Which can be toxic to nerve cells. This discovery is crucial because it makes it possible to target the mutation at different levels to improve patients’ lives.
Currently, researchers are testing a potential treatment for another form of ataxia, SCA2which can also be beneficial for patients suffering from SCA4 Due to similar mechanisms. Studies are ongoing.
sources:
- “SCA4 gene breakthrough: Uncovering the cause of a devastating neurological disease,” Life Sciences Medical News, 2024
- Figueroa, K. P., et al. (2024). Expansion of the GGC repeat in the polyglycine encoding ZFHX3 causes spinocerebellar ataxia type 4 and autophagy. Nature genetics.
Written by: Martine Rambanana, Director of Scientific Action at FRC