New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19
Hartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the neutral amino acid transporter, SLC6A19/B0AT1. Reduced absorption in the intestine and kidney results in deficiencies in neutral amino acids and their down-stream metabolites, including niacin, associated with s...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-06-01
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| Series: | IBRO Neuroscience Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2667242123000271 |
| _version_ | 1797804547794534400 |
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| author | Zachary Kravetz Rainald Schmidt-Kastner |
| author_facet | Zachary Kravetz Rainald Schmidt-Kastner |
| author_sort | Zachary Kravetz |
| collection | DOAJ |
| description | Hartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the neutral amino acid transporter, SLC6A19/B0AT1. Reduced absorption in the intestine and kidney results in deficiencies in neutral amino acids and their down-stream metabolites, including niacin, associated with skin lesions and neurological symptoms. The effects on the nervous system such as ataxia have been related to systemic deficiencies of tryptophan (and other neutral amino acids) as no expression of the B0AT1 transporter was found in the brain. In the intestine, SLC6A19 cooperates with ACE2 which has received major attention as the cellular receptor for SARS-CoV-2. When transcriptomics data for ACE2 and its partner proteins were examined, a previously unrecognized expression of Slc6a19 mRNA in the ependymal cells of the mouse brain was encountered that is set into the context of neurological manifestations of Hartnup disease with this communication. A novel role for SLC6A19/B0AT1 in amino acid transport from CSF into ependymal cells is proposed and a role of niacin in ependymal cells highlighted. |
| first_indexed | 2024-03-13T05:38:50Z |
| format | Article |
| id | doaj.art-ab3dc20952d4430d84900dc2a989f26a |
| institution | Directory Open Access Journal |
| issn | 2667-2421 |
| language | English |
| last_indexed | 2024-03-13T05:38:50Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | IBRO Neuroscience Reports |
| spelling | doaj.art-ab3dc20952d4430d84900dc2a989f26a2023-06-14T04:34:42ZengElsevierIBRO Neuroscience Reports2667-24212023-06-0114393397New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19Zachary Kravetz0Rainald Schmidt-Kastner1Schmidt College of Medicine, Florida Atlantic University (FAU), 777 Glades Road, Boca Raton, FL 33431, USACorrespondence to: Dept. Clinical Neurosciences, Schmidt College of Medicine, Florida Atlantic University (FAU), 777 Glades Road, Boca Raton, FL 33431, USA.; Schmidt College of Medicine, Florida Atlantic University (FAU), 777 Glades Road, Boca Raton, FL 33431, USAHartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the neutral amino acid transporter, SLC6A19/B0AT1. Reduced absorption in the intestine and kidney results in deficiencies in neutral amino acids and their down-stream metabolites, including niacin, associated with skin lesions and neurological symptoms. The effects on the nervous system such as ataxia have been related to systemic deficiencies of tryptophan (and other neutral amino acids) as no expression of the B0AT1 transporter was found in the brain. In the intestine, SLC6A19 cooperates with ACE2 which has received major attention as the cellular receptor for SARS-CoV-2. When transcriptomics data for ACE2 and its partner proteins were examined, a previously unrecognized expression of Slc6a19 mRNA in the ependymal cells of the mouse brain was encountered that is set into the context of neurological manifestations of Hartnup disease with this communication. A novel role for SLC6A19/B0AT1 in amino acid transport from CSF into ependymal cells is proposed and a role of niacin in ependymal cells highlighted.http://www.sciencedirect.com/science/article/pii/S2667242123000271Hartnup diseaseAmino acid transporterTryptophanSLC6A19ACE2Ependyma |
| spellingShingle | Zachary Kravetz Rainald Schmidt-Kastner New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19 IBRO Neuroscience Reports Hartnup disease Amino acid transporter Tryptophan SLC6A19 ACE2 Ependyma |
| title | New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19 |
| title_full | New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19 |
| title_fullStr | New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19 |
| title_full_unstemmed | New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19 |
| title_short | New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19 |
| title_sort | new aspects for the brain in hartnup disease based on mining of high resolution cellular mrna expression data for slc6a19 |
| topic | Hartnup disease Amino acid transporter Tryptophan SLC6A19 ACE2 Ependyma |
| url | http://www.sciencedirect.com/science/article/pii/S2667242123000271 |
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