Single membranes interaction with Phenylalanine to the understanding of Phenylketonuria disease mechanisms
Phenylketonuria (PKU OMIM 261600) is one of the most common inherited metabolic disorders (1:10,000 births). Its onset and progression is connected to an excess of phenylalanine (Phe) concentration in blood and tissues at the basis of neuropsychological deficits. Recent studies indicated the presence of amyloid-like assemblies in the brains of transgenic mouse models and patients with PKU. The co-localization of typical hallmarks of amyloid-type structures and Phe presence was used as an indication that selfassembled structures of the excess Phe could accumulate in the brain and potentially cause neurological illness.If Phe aggregates are toxic, mixing them with interfering molecules that affects either the structure or the stability of aggregates, is effective in reducing toxicity. We observed that the extent and effect of interaction of Phe with model membranes depends on membrane composition. We intend to go on in the study of the type and extent of the interaction of Phe, also mixed with an interfering molecule, with different model membranes, composed by phospholipids, cholesterol and glycolipids in different proportions.
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RONDELLI Valeria Maria; BROCCA Paola; CANTU Laura; DEL FAVERO Elena; DI COLA Emanuela and FRAGNETO Giovanna. (2018). Single membranes interaction with Phenylalanine to the understanding of Phenylketonuria disease mechanisms. Institut Laue-Langevin (ILL) doi:10.5291/ILL-DATA.8-02-799
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