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Nat Chem Biol. 2012 Aug;8(8):701-6. doi: 10.1038/nchembio.1002. Epub 2012 Jun 17.

Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria.

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1
Department of Molecular Microbiology and Biotechnology, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.

Abstract

Phenylketonuria (PKU) is characterized by phenylalanine accumulation and progressive mental retardation caused by an unknown mechanism. We demonstrate that at pathological concentrations, phenylalanine self-assembles into fibrils with amyloid-like morphology and well-ordered electron diffraction. These assemblies are specifically recognized by antibodies, show cytotoxicity that can be neutralized by the antibodies and are present in the hippocampus of model mice and in parietal cortex brain tissue from individuals with PKU. This is, to our knowledge, the first demonstration that a single amino acid can form amyloid-like deposits, suggesting a new amyloidosis-like etiology for PKU.

PMID:
22706200
DOI:
10.1038/nchembio.1002
[Indexed for MEDLINE]
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