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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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
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spelling doaj-fd74aff3d3a54ebd945e0c971b7a601f2021-05-30T04:43:03ZengElsevierMolecular Genetics and Metabolism Reports2214-42692021-06-0127100751The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKUMiroslaw Bik-Multanowski0Kinga Bik-Multanowska1Iwona Betka2Anna Madetko-Talowska3Corresponding author at: Department of Medical Genetics, Jagiellonian University Medical College, ul. Wielicka 265, 30-663 Krakow, Poland.; Department of Medical Genetics, Jagiellonian University Medical College, Krakow, PolandDepartment of Medical Genetics, Jagiellonian University Medical College, Krakow, PolandDepartment of Medical Genetics, Jagiellonian University Medical College, Krakow, PolandDepartment of Medical Genetics, Jagiellonian University Medical College, Krakow, PolandFunctional 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.http://www.sciencedirect.com/science/article/pii/S2214426921000458Hyperphenylalaninemia toxicityAmino acid transporterGene variantBlood-brain barrierMagnetic resonance spectroscopy
collection DOAJ
language English
format Article
sources DOAJ
author Miroslaw Bik-Multanowski
Kinga Bik-Multanowska
Iwona Betka
Anna Madetko-Talowska
spellingShingle Miroslaw Bik-Multanowski
Kinga Bik-Multanowska
Iwona Betka
Anna Madetko-Talowska
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
Molecular Genetics and Metabolism Reports
Hyperphenylalaninemia toxicity
Amino acid transporter
Gene variant
Blood-brain barrier
Magnetic resonance spectroscopy
author_facet Miroslaw Bik-Multanowski
Kinga Bik-Multanowska
Iwona Betka
Anna Madetko-Talowska
author_sort Miroslaw Bik-Multanowski
title The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
title_short The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
title_full The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
title_fullStr The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
title_full_unstemmed The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
title_sort rs113883650 variant of slc7a5 (lat1) gene may alter brain phenylalanine content in pku
publisher Elsevier
series Molecular Genetics and Metabolism Reports
issn 2214-4269
publishDate 2021-06-01
description 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.
topic Hyperphenylalaninemia toxicity
Amino acid transporter
Gene variant
Blood-brain barrier
Magnetic resonance spectroscopy
url http://www.sciencedirect.com/science/article/pii/S2214426921000458
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