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ATXN2 Gene Defect Model Shows Promise for Neurodegenerative Disease Treatment
Russian scientists modeled an ATXN2 gene defect causing neurodegenerative diseases; abnormal CAG repeats disrupt protein synthesis, impacting nerve impulse transmission and correlating with disease onset age; future research will test drugs on mice to increase nuclear fluid viscosity.
- How does the length of the CAG tract in the ATXN2 gene affect the onset and severity of neurodegenerative diseases?
- The SSC team's research reveals how the length of the CAG tract in the ATXN2 gene impacts disease onset. An increased number of repeats (e.g., 34, 50, or 70 instead of the normal 20) disrupts the gene's reading process, causing mismatches between gene fragments and protein components, similar to a broken zipper. This mismatch correlates with the age of disease onset; more repeats lead to earlier onset.
- What is the key finding of the Southern Scientific Center's research on the ATXN2 gene and its implications for neurodegenerative diseases?
- Researchers at the Southern Scientific Center (SSC) of the Russian Academy of Sciences have modeled a genetic defect linked to the ATXN2 gene, a known contributor to Parkinson's and other neurodegenerative diseases. The defect involves an abnormal number of CAG repeats in the gene, leading to a faulty protein and impaired nerve impulse transmission. This faulty protein, a crucial component in nerve impulse transmission, becomes toxic due to the abnormal CAG-tract length, resulting in motor impairments such as tremors.
- What are the potential therapeutic implications of the research findings regarding nuclear fluid viscosity and its impact on ATXN2-related neurodegeneration?
- The study demonstrated that increased viscosity of the nuclear fluid could potentially stabilize the situation, even with a high number of CAG repeats. However, this effect was observed only in a mathematical model; nuclear fluid viscosity is stable in practice. Future research will involve testing existing drugs affecting intracellular viscosity on mice carrying the ATXN2 gene mutation, in collaboration with Cuban researchers.
Cognitive Concepts
Framing Bias
The framing is generally neutral, presenting the research findings without overt bias. The emphasis is on the scientific process and findings. The use of quotes from the researcher helps to convey the information directly, while the reporting avoids overly sensationalizing the results.
Bias by Omission
The article focuses on a specific research finding regarding ATXN2 and its relation to neurodegenerative diseases. While it mentions other factors can contribute, it doesn't elaborate on them, potentially omitting a broader context of the causes of such diseases. This omission, however, might be due to scope limitations, focusing the article on the specific research.
Sustainable Development Goals
The research focuses on understanding the genetic basis of neurodegenerative diseases like Parkinson's, aiming to improve diagnosis and potential treatments. This directly contributes to SDG 3, which targets reducing premature mortality from non-communicable diseases, including neurodegenerative disorders.