Spinocerebellar ataxia type 4 (SCA4) is a rare disease Its prevalence is unknown. It begins to manifest itself in youth, but its origin is in our genes. Exactly which was a mystery we’d been trying to answer for 25 years.
Well, we may already have this answer.
A new track. An international team of researchers found The gene responsible for the emergence of SCA4, a rare, neurodegenerative and currently, curable disease. This is a gene called ZFHX3.
Spinocerebellar ataxias. The Spinocerebellar Ataxia (SCA) These are neurological diseases. They are characterized by degeneration of cerebellum cells, although sometimes they also affect the spinal cord. The term ataxia relates to one of the symptoms associated with these diseases, difficulty coordinating movement.
More than 40 types of spinocerebellar ataxia are distinguished. SCA4 is also known as axonal sensory neuropathy and is distinguished from others by changes in sensation. The first symptoms of the disease usually appear around the age of 40 or 50 and include difficulty with walking and balance that progresses.
As the team responsible for the study explained, the hereditary patterns of the disease made it clear that its origin was genetic. But until now it was unknown which region to look for on which chromosome.
ZFHX3. The search led to identify their genes ZFHX3 responsible for this disease. Due to the nature of this gene the origin of the disease was hidden and could only be detected through advanced sequencing techniques. Techniques capable of sequencing long-read genes inserted into long pieces of DNA.
This is because ZFHX3 is a gene that is located in a region that contains numerous repeated segments that resemble regions on other chromosomes. It is in these repetitive parts where mutations appear. The team observed that individuals with long copies of this gene developed the disease.
Protein is recyclable. The team analyzed what was happening at the cellular level. They found that cells with the mutation lost the ability to recycle the protein, which sometimes led to the proteins clumping together.
“This mutation is an extended and toxic repeat, and we believe it actually jams the mechanism by which a cell deals with unfolded or misfolded proteins,” A press release explained Stefan Palst, co-author of the study. This will result in “toxicity” of nerve cells.
There was a job description published in an article in the magazine Nature genetics.
Looking for a remedy. The discovery could open the door to a greater understanding of the disease and, with it, possible ways to discover treatments and cures. Meanwhile, Patty Figueroa saysThe article’s first author may be able to help families with known cases of SCA4, since those who have not yet developed the disease can enter a simple genetic test to determine if they have the mutation.
The work may help better understand this and other SCAs, such as type 2 (SCA2). This second form of ataxia also appears to be related to the protein recycling process. Today there is a potential treatment, still in clinical trials, that could help not only those suffering from SCA2 but also those looking to develop a treatment for SCA4.
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Picture | Mandy Gandelman