Pathological and physiological functions of presenilins
2006

Functions of Presenilins in Alzheimer's Disease

publication Evidence: moderate

Author Information

Author(s): Vetrivel Kulandaivelu, Zhang Yun-wu, Xu Huaxi, Thinakaran Gopal

Primary Institution: The University of Chicago

Hypothesis

How do mutations in PSEN1 and PSEN2 genes contribute to early-onset familial Alzheimer's disease?

Conclusion

Mutations in PSEN1 and PSEN2 genes are linked to early-onset familial Alzheimer's disease and affect the production of amyloid-beta peptides.

Supporting Evidence

  • Mutations in PSEN1 and PSEN2 genes account for most early-onset familial Alzheimer's disease cases.
  • Presenilins are involved in the production of amyloid-beta peptides, which accumulate in Alzheimer's disease.
  • Recent studies have linked PSEN1 to familial frontotemporal dementia.

Takeaway

Some genes can cause Alzheimer's disease when they have certain changes, and these changes can make a harmful protein build up in the brain.

Methodology

The review discusses various studies on the role of presenilins in Alzheimer's disease and their interactions with other proteins.

Limitations

The review primarily focuses on presenilins and may not cover all aspects of Alzheimer's disease.

Digital Object Identifier (DOI)

10.1186/1750-1326-1-4

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