PSEN1

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List of terms related to PSEN1

Presenilin 1 (Alzheimer disease 3), also known as PSEN1, is a human gene.

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma secretase activity or themselves are protease enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined.

Further reading

• Cruts M, Hendriks L, Van Broeckhoven C (1997). "The presenilin genes: a new gene family involved in Alzheimer disease pathology". Hum. Mol. Genet. 5 Spec No: 1449–55. PMID 8875251.CS1 maint: Multiple names: authors list (link)
• Cruts M, Van Broeckhoven C (1998). "Presenilin mutations in Alzheimer's disease". Hum. Mutat. 11 (3): 183–90. doi:10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J. PMID 9521418.
• Larner AJ, Doran M (2006). "Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene". J. Neurol. 253 (2): 139–58. doi:10.1007/s00415-005-0019-5. PMID 16267640.
• Wolfe MS (2007). "When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease". EMBO Rep. 8 (2): 136–40. doi:10.1038/sj.embor.7400896. PMID 17268504.
• De Strooper B (2007). "Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease". EMBO Rep. 8 (2): 141–6. doi:10.1038/sj.embor.7400897. PMID 17268505.