The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU

The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU

Functional alteration of the LAT1 amino acid transporter may be responsible for interindividual differences in cerebral phenylalanine content and the lack of intellectual disability in some patients with untreated phenylketonuria. We assessed the effect of the common variant rs113883650 of the SLC7A...

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Bibliographic Details
Main Authors: Miroslaw Bik-Multanowski, Kinga Bik-Multanowska, Iwona Betka, Anna Madetko-Talowska
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Hyperphenylalaninemia toxicity
Amino acid transporter
Gene variant
Blood-brain barrier
Magnetic resonance spectroscopy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000458
Description
Summary:Functional alteration of the LAT1 amino acid transporter may be responsible for interindividual differences in cerebral phenylalanine content and the lack of intellectual disability in some patients with untreated phenylketonuria. We assessed the effect of the common variant rs113883650 of the SLC7A5 (LAT1) gene on brain phenylalanine content, as measured with use of magnetic resonance spectroscopy. Our results suggest that the presence of this variant could influence the amount of phenylalanine in the brain.
ISSN:2214-4269

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