Researchers at the Mayo Clinic have collaborated with the international community to develop a potential way to test for spinocerebellar ataxia type 3 (SCA3), also called Machado-Joseph Disease. Additionally, they have been able to identify the role of a specific gene involved in this disease.

Findings from this study have been published in Science Translational Medicine.

Spinocerebellar Ataxia Type 3

SCA3 is a rare disease that is the result of a mutated ATXN3 gene. The mutation causes harm to the central nervous system, and patients experience symptoms similar to multiple sclerosis or Parkinson’s disease. Symptoms generally present between 40 and 70 years of age. The symptoms include-

• Unsteady gait
• Decline of sensory nerves
• Decline of motor nerves
• Decline in muscle control

When the mutated protein polyQ ataxin-3 builds up in the body, it causes toxicity inside the cells. Therefore, it is believed one could treat the disease by reducing the accumulation of this mutated protein. Currently, the disease has no cure.

About the Study

An important consideration of this study is that it included patients from all over the world. This required an international effort. SCA3 is generally more common in those who are from Portugal and the Azores. But cases have been documented in Europe, North America, South America, and Asia.

Its goal was to find a useful molecular target that could be used to assess different therapies for SCA3. The study was based on methods used in amyotrophic lateral sclerosis and frontotemporal dementia studies.  

Ultimately, the team was able to uncover a test called an immunoassay which can assess the amount of the mutated protein within bodily fluids, such as blood or cerebrospinal fluid. This means the test can help researchers understand how effective a new therapy is at decreasing the levels of the mutated protein.

Further, the researchers discovered that a single nucleotide polymorphism was closely related to the mutated gene. This means that in the future, researchers can investigate therapies that specifically target this genetic alteration. When we know what specifically we should be targeting, clinical trials are more effective, and we will be closer to a treatment much faster.

You can read more about this study here.