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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Autores principales: Bik-Multanowski, Miroslaw, Bik-Multanowska, Kinga, Betka, Iwona, Madetko-Talowska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040326/
https://www.ncbi.nlm.nih.gov/pubmed/33868932
http://dx.doi.org/10.1016/j.ymgmr.2021.100751
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author Bik-Multanowski, Miroslaw
Bik-Multanowska, Kinga
Betka, Iwona
Madetko-Talowska, Anna
author_facet Bik-Multanowski, Miroslaw
Bik-Multanowska, Kinga
Betka, Iwona
Madetko-Talowska, Anna
author_sort Bik-Multanowski, Miroslaw
collection PubMed
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.
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spelling pubmed-80403262021-04-15 The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU Bik-Multanowski, Miroslaw Bik-Multanowska, Kinga Betka, Iwona Madetko-Talowska, Anna Mol Genet Metab Rep Short Communication 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. Elsevier 2021-03-31 /pmc/articles/PMC8040326/ /pubmed/33868932 http://dx.doi.org/10.1016/j.ymgmr.2021.100751 Text en © 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Bik-Multanowski, Miroslaw
Bik-Multanowska, Kinga
Betka, Iwona
Madetko-Talowska, Anna
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
title 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_short 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
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040326/
https://www.ncbi.nlm.nih.gov/pubmed/33868932
http://dx.doi.org/10.1016/j.ymgmr.2021.100751
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