The intellectual disability gene PQBP1 rescues Alzheimer’s disease pathology

Journal: Molecular Psychiatry

Published: 2018-10-03

DOI: 10.1038/s41380-018-0253-8

Affiliations: 5

Authors: 12

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Research Highlight

Molecular routes to rescuing memory



A protein associated with intellectual disabilities could also be behind the onset of Alzheimer’s disease.

Drugs that destroy the build-up of beta amyloid, or ‘senile plaque’, in Alzheimer’s patients have yet to improve memory and brain function.

A team led by researchers from Tokyo Medical and Dental University has found that, just before the growth of senile plaque in mice developing Alzheimer’s, the protein SRRM2 underwent chemical changes that reduced levels of PQBP1, a protein linked to intellectual disabilities.

The team bred mice with a mutated PQBP1 gene, which modified synapse structures in the mice’s brains and disrupted communication between neurons. Supplementing Alzheimer’s mice with PQBP1 proteins recovered the synapse structure and improved their brain function.

Uncovering the molecules and mutations that precede the onset of Alzheimer’s could lead to targeted gene therapies.

Supported content

  1. Molecular Psychiatry 23, 2090–2110 (2018). doi: 10.1038/s41380-018-0253-8
Institutions Share
Department of Neuropathology, TMDU, Japan 0.54
School of Medicine, Juntendo University, Japan 0.17
RIKEN Laboratory for Proteolytic Neuroscience, Japan 0.17
Division of Neurology, Jichi Medical University, Japan 0.08
Center for Brain Integration Research (CBIR), TMDU, Japan 0.04