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Alzheimer’s Progression Link: Recent research from UT Health San Antonio suggests that the activation of “jumping genes” (transposons) may play a significant role in the progression of Alzheimer’s disease.
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What are Jumping Genes? Also known as transposons, these are mobile genetic elements that can move within the genome. They make up almost 50% of the human genome. Most are inactive, but some can “jump,” leading to genomic instability.
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LINE-1 Retrotransposons: A common type, these replicate through RNA and use reverse transcriptase to integrate into DNA. Their activity is normally controlled, but these controls can weaken in aging or diseased brains.
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Mechanism of Damage: When activated, transposons can insert into essential genes, disrupting DNA and causing cellular damage, particularly in vulnerable neurons.
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Fruit Fly Experiments: Blocking transposon activity in fruit flies mimicking Alzheimer’s symptoms using an HIV drug (3TC) improved neural function. 3TC is a reverse transcriptase inhibitor, preventing retrotransposon copying.
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Human Clinical Trial: While 3TC didn’t directly improve memory in human patients, it reduced neurofilament light (NfL), a marker of neurodegeneration, suggesting neuronal protection.
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New Alzheimer’s Hypothesis: Alzheimer’s may be caused by genomic instability from jumping genes, not just protein aggregation (amyloid or tau).
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Barbara McClintock Discovery: Jumping genes were discovered by Barbara McClintock, who won the Nobel Prize in 1983 for her work.
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Impact on Evolution: Jumping genes contribute to genetic diversity, genome reorganization, and can sometimes trigger diseases by disrupting normal gene function.
