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PSEN2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PSEN2 gene

The PSEN2 gene provides instructions for creating the presenilin 2 protein, which is essential for processing proteins involved in cell growth and neuronal development.

Normal Function

The PSEN2 gene provides instructions for making a protein called presenilin 2. This protein helps process proteins that transmit chemical signals from the cell membrane into the nucleus. Once in the nucleus, these signals activate genes that are important for cell growth and maturation.

Presenilin 2 is best known for its role in processing amyloid precursor protein (APP), which is found in the brain and other tissues. Presenilin 2 works with other enzymes to cut APP into smaller segments, including soluble amyloid precursor protein (sAPP) and amyloid beta peptide. Research suggests that sAPP has growth-promoting properties and may play a role in the formation of neurons in the brain.

Health Conditions Related to Genetic Changes

Alzheimer's disease

At least 11 mutations in the PSEN2 gene have been shown to cause early-onset Alzheimer's disease. Mutations in this gene account for less than 5 percent of all early-onset cases of the disorder.

Common mutations, such as Asn141Ile (N141I) and Met239Val (M239V), disrupt the processing of amyloid precursor protein. This leads to the overproduction of amyloid beta peptide, which builds up in the brain to form amyloid plaques. This accumulation is believed to lead to the death of neurons and the progressive symptoms of Alzheimer's disease.

Other Names for This Gene

  • AD3-like protein
  • AD3L
  • AD3LP
  • AD4
  • AD5
  • Alzheimer's disease 3-like
  • E5-1
  • presenilin 2 (Alzheimer disease 4)
  • PS2 protein (alzheimer-associated)
  • PSN2_HUMAN
  • PSNL2
  • STM2

Frequently Asked Questions

PSEN2 gene mutation is identified through genetic testing, usually involving a blood sample. Testing is typically considered for individuals who develop Alzheimer's symptoms at an unusually young age (early-onset) or those with a strong family history of early-onset Alzheimer's disease, especially if other family members have already been diagnosed with a PSEN2 mutation.
lzheimer's disease linked to PSEN2 gene mutations is considered early-onset, meaning symptoms typically begin before age 65, often in a person's 40s or 50s. The progression of cognitive decline and other symptoms is generally similar to other forms of Alzheimer's disease, but the early onset can significantly impact family and career planning.
Currently, there are no specific treatments that can prevent or cure Alzheimer's disease caused by PSEN2 mutations. However, management focuses on symptomatic relief and supportive care, similar to other forms of Alzheimer's. Individuals with PSEN2 mutations may be eligible for specific clinical trials investigating new therapies, including those targeting amyloid beta peptide accumulation, which is a key mechanism in PSEN2-related disease.
PSEN2 mutations that cause early-onset Alzheimer's disease are inherited in an autosomal dominant pattern. This means that if a parent has a PSEN2 mutation, each child has a 50% chance of inheriting the mutation. Family members considering testing should receive genetic counseling to understand the implications for themselves and their relatives.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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