What does "PURA" mean?
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PURA is a gene in humans that plays a key role in the development of the nervous system. Mutations in this gene can lead to a condition known as PURA syndrome, which affects how the brain grows and works.
How PURA Works
The PURA gene helps make a protein that is important for managing other molecules in the cell, particularly RNA, which is essential for carrying messages in the body. This gene has parts that can easily change shape, making the PURA protein sensitive to mutations. Even small changes or errors in the PURA gene can lead to significant problems.
Effects of Mutations
When there are mutations in the PURA gene, it can cause the PURA protein to not function properly. This can lead to issues with how brain cells communicate and work together, resulting in the symptoms seen in PURA syndrome. Most mutations in this gene lead to serious effects, which is different from many other genetic disorders where not all changes cause severe problems.
Importance of Research
Studying the PURA gene and its mutations helps scientists understand why certain changes lead to PURA syndrome. This knowledge can guide future research and potential treatments for individuals affected by this condition.