Three Gene Variants May Delay—or Speed Up—Alzheimer's, Study Finds
Summary
Researchers found three gene variants that can change how early or late inherited Alzheimer's disease appears. These gene changes may help explain why people with the same inherited mutations get symptoms at different ages.Key Facts
- The study focused on autosomal dominant Alzheimer's disease (ADAD), a rare inherited form caused by mutations in APP, PSEN1, or PSEN2 genes.
- ADAD represents about 1% of all Alzheimer's cases and usually starts at a younger age.
- Scientists analyzed genetic data from 101 people with ADAD and over 5,000 people without these mutations.
- Three genes—CNIH4, CCNG1, and RHOJ—were linked with changes in Alzheimer's risk or how fast the disease progresses.
- A variant in CCNG1 was tied to symptoms starting about 10 years earlier and higher levels of a harmful brain protein called TDP-43.
- The RHOJ variant was linked to markers showing more severe Alzheimer's damage in the brain.
- The CNIH4 variant may play a key role in how inherited Alzheimer's develops.
- These findings could help improve diagnosis, guide clinical trials, and lead to new treatments, not only for inherited Alzheimer's but also for common Alzheimer’s cases.
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