Previous studies have revealed that neurodegenerative conditions, including Huntington’s disease and spinocerebellar ataxia, are triggered by an increase in the number of trinucleotide CAG repeats in the coding gene, generating an expansion of the polyglutamine tract within a protein.
These disorders are hereditary because the expansion of CAG repeats in the coding gene is passed on to offspring. Now, a team of researchers has identified a potential new cause of these genetic mutations.
Until now, it was thought that the mutations responsible for these genetic diseases were triggered exclusively by increased protein aggregate toxicity.
However, a new study by a team of UK and Chinese researchers reveals another possible source: ribonucleic acid (RNA), which can generate the levels of toxicity needed to damage the brain in these conditions.
This new study, recently published in the journal “Nature Chemical Biology”, shows that the expansion of the number of CAG repeats can lead to the formation of RNA aggregates in the cytoplasm through a process called extraction and liquid-liquid gelation. This condition decreases protein synthesis, leading to neurotoxicity and neurodegeneration.
The research resulted from the collaboration between specialists from the University of Plymouth (UK), Fudan University and Tsinghua University (China).
“For conditions like Huntington’s there are few treatments available, but none that lead to a cure. In order to take the necessary steps to benefit patients and their families, we must fully understand the nature of these diseases.”explained neurobiology professor Shouqing Luo from Plymouth University, one of the authors of the study.
The discovery, according to the authors of the study, could represent a significant advance in understanding the causes of these inherited conditions and could contribute to the development of treatments.
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2023-08-21 15:00:25
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