The 98% mystery: Scientists just cracked the code on “junk DNA” linked to Alzheimer’s

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Source: ScienceDaily Health

Original: https://www.sciencedaily.com/releases/2025/12/251219093315.htm...

Published: Fri, 19 Dec 2025 11:03:19 EST

Scientists found that a large part of the so-called "Junk DNA" contains regulatory elements (enhancers) that function as switches of gene activity in brain cells associated with Alzheimer's disease[1]. In an experiment, they tested nearly 1,000 candidate enhancers in human astrocytes and identified approximately 150 that actually affected gene expression[1]. Many of these functional enhancers controlled genes already linked to Alzheimer's disease risk[1]. The transition from ~1000 candidates to ~150 functional switches significantly narrows the regions of non-coding DNA where genetic causes of disease can be searched[1]. A set of these experimental data is used to train artificial intelligence models to more accurately predict functional enhancers, which can save time needed for laboratory validation[1]. The authors also note that similar studies in other brain cell types are needed to more comprehensively map functional regulatory elements in the non-coding genome[1].