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Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency
Human sepiapterin reductase (SR) deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could serve as a model of SR deficiency. A point mutation in the BmSPR gene led to a five amino acid...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Royal Society
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137946/ https://www.ncbi.nlm.nih.gov/pubmed/32269807 http://dx.doi.org/10.1098/rsos.191888 |
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author | Jiang, Guihua Song, Jiangbo Hu, Hai Tong, Xiaoling Dai, Fangyin |
author_facet | Jiang, Guihua Song, Jiangbo Hu, Hai Tong, Xiaoling Dai, Fangyin |
author_sort | Jiang, Guihua |
collection | PubMed |
description | Human sepiapterin reductase (SR) deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could serve as a model of SR deficiency. A point mutation in the BmSPR gene led to a five amino acid deletion at the carboxyl terminus in the lemon mutant. In addition, classical phenotypes seen in SR deficient patients were observed in the lemon mutant, including a normal phenylalanine level, a decreased dopamine and serotonin content, and an increased neopterin level. A recovery test showed that the replenishment of l-dopa significantly increased the dopamine level in the lemon mutant. The silkworm lemon mutant also showed negative behavioural abilities. These results suggest that the silkworm lemon mutant has an appropriate genetic basis and meets the biochemical requirements to be a model of SR deficiency. Thus, the silkworm lemon mutant can serve as a candidate animal model of SR deficiency, which may be helpful in facilitating accurate diagnosis and effective treatment options of SR deficiency. |
format | Online Article Text |
id | pubmed-7137946 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The Royal Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-71379462020-04-08 Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency Jiang, Guihua Song, Jiangbo Hu, Hai Tong, Xiaoling Dai, Fangyin R Soc Open Sci Biochemistry, Cellular and Molecular Biology Human sepiapterin reductase (SR) deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could serve as a model of SR deficiency. A point mutation in the BmSPR gene led to a five amino acid deletion at the carboxyl terminus in the lemon mutant. In addition, classical phenotypes seen in SR deficient patients were observed in the lemon mutant, including a normal phenylalanine level, a decreased dopamine and serotonin content, and an increased neopterin level. A recovery test showed that the replenishment of l-dopa significantly increased the dopamine level in the lemon mutant. The silkworm lemon mutant also showed negative behavioural abilities. These results suggest that the silkworm lemon mutant has an appropriate genetic basis and meets the biochemical requirements to be a model of SR deficiency. Thus, the silkworm lemon mutant can serve as a candidate animal model of SR deficiency, which may be helpful in facilitating accurate diagnosis and effective treatment options of SR deficiency. The Royal Society 2020-03-25 /pmc/articles/PMC7137946/ /pubmed/32269807 http://dx.doi.org/10.1098/rsos.191888 Text en © 2020 The Authors. http://creativecommons.org/licenses/by/4.0/ Published by the Royal Society under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/4.0/, which permits unrestricted use, provided the original author and source are credited. |
spellingShingle | Biochemistry, Cellular and Molecular Biology Jiang, Guihua Song, Jiangbo Hu, Hai Tong, Xiaoling Dai, Fangyin Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency |
title | Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency |
title_full | Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency |
title_fullStr | Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency |
title_full_unstemmed | Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency |
title_short | Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency |
title_sort | evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency |
topic | Biochemistry, Cellular and Molecular Biology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137946/ https://www.ncbi.nlm.nih.gov/pubmed/32269807 http://dx.doi.org/10.1098/rsos.191888 |
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