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New Research Unveils Unexpected Mechanism of Genetic Mutation Behind Huntington’s Disease, Revolutionizing Understanding of the Disorder
- A new study has uncovered the mechanisms behind the progression of Huntington’s disease, a neurodegenerative disorder that affects an estimated 1 in 10,000 Americans.
- Researchers at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have found that Huntington’s disease is initiated by long somatic DNA-repeat expansions in specific brain cells--striatal projection neurons--that trigger cellular toxicity and death only after the threshold of toxicity is crossed.
- The CAG repeat in the Huntingtin (HTT) gene has been known to cause the disease, but this study has revealed the damage only occurs decades later--shedding light on how Huntington’s disease manifests.
- Researchers redesigned their understanding of the disease, which now entails identifying strategies to impede CAG-repeat expansion before it leads to cellular toxicity.
- Scientists employed innovative technologies, including droplet single-cell RNA sequencing, to evaluate gene expression profiles alongside the CAG repeat lengths in individual neurons. This elucidated the specific pathways that lead to cell dysfunction and death, marking a significant step forward in the precision of molecular neuroscience.
- The research team analyzed over 500,000 individual cells from both Huntington’s patients and healthy controls and discovered that many neuron types express a broad spectrum of CAG repeats inherited but remain asymptomatic until much later in life.
- The identification of viable molecular targets may lead to breakthroughs that can significantly alter the course of treatment and potentially prevent the onset of the disease altogether.
- The Huntington’s disease paradigm shift could revolutionize neurodegenerative disease treatment by broadening target opportunities, from HTT only to CAG-repeat expansion.
- The study stresses the importance of continued exploration and reimagining of disease mechanisms, which have the potential for wide-reaching applications, promising hope for families afflicted by similar genetic disorders.
- The research conducted emphasizes a new era of inquiry in genetics, molecular biology, and neurology convergence to tackle complex genetic afflictions.
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