Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives
Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are very rare in all surveyed populations around the globe, excep...
Published in: | The Application of Clinical Genetics |
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Main Authors: | , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
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2023
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Online Access: | https://portal.findresearcher.sdu.dk/da/publications/4ef1296a-cbd2-478d-adda-954fe24a4334 https://doi.org/10.2147/TACG.S401712 https://findresearcher.sdu.dk/ws/files/237562013/TACG_401712_genetic_loss_of_sucrase_isomaltase_function_mechanisms_imp.pdf |
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ftsydanskunivpub:oai:sdu.dk:publications/4ef1296a-cbd2-478d-adda-954fe24a4334 2024-09-15T18:09:59+00:00 Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives Senftleber, Ninna Karsbæk Ramne, Stina Moltke, Ida Jørgensen, Marit Eika Albrechtsen, Anders Hansen, Torben Andersen, Mette K. 2023-03-23 application/pdf https://portal.findresearcher.sdu.dk/da/publications/4ef1296a-cbd2-478d-adda-954fe24a4334 https://doi.org/10.2147/TACG.S401712 https://findresearcher.sdu.dk/ws/files/237562013/TACG_401712_genetic_loss_of_sucrase_isomaltase_function_mechanisms_imp.pdf eng eng https://portal.findresearcher.sdu.dk/da/publications/4ef1296a-cbd2-478d-adda-954fe24a4334 info:eu-repo/semantics/openAccess Senftleber , N K , Ramne , S , Moltke , I , Jørgensen , M E , Albrechtsen , A , Hansen , T & Andersen , M K 2023 , ' Genetic Loss of Sucrase-Isomaltase Function : Mechanisms, Implications, and Future Perspectives ' , Application of Clinical Genetics , vol. 16 , pp. 31-39 . https://doi.org/10.2147/TACG.S401712 cardiometabolic health congenital sucrase-isomaltase deficiency Greenland Inuit loss-of-function variants sucrase-isomaltase sucrose article 2023 ftsydanskunivpub https://doi.org/10.2147/TACG.S401712 2024-07-29T23:46:24Z Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are very rare in all surveyed populations around the globe, except the Arctic-specific c.273_274delAG loss-of-function (LoF) variant, which is common in the Greenlandic Inuit and other Arctic populations. In these populations, it is, therefore, possible to study people with loss of SI function in an unbiased way to elucidate the physiological function of SI, and investigate both short-term and long-term health effects of reduced small intestinal digestion of sucrose and starch. Importantly, a recent study of the LoF variant in Greenlanders reported that adult homozygous carriers have a markedly healthier metabolic profile. These findings indicate that SI inhibition could potentially improve metabolic health also in individuals not carrying the LoF variant, which is of great interest considering the massive number of individuals with obesity and type 2 diabetes worldwide. Therefore, the objectives of this review, are 1) to describe the biological role of SI, 2) to describe the metabolic impact of the Arctic SI LoF variant, 3) to reflect on potential mechanisms linking reduced SI function to metabolic health, and 4) to discuss what knowledge is necessary to properly evaluate whether SI inhibition is a potential therapeutic target for improving cardiometabolic health. Article in Journal/Newspaper Greenland greenlander* greenlandic inuit University of Southern Denmark Research Portal The Application of Clinical Genetics Volume 16 31 39 |
institution |
Open Polar |
collection |
University of Southern Denmark Research Portal |
op_collection_id |
ftsydanskunivpub |
language |
English |
topic |
cardiometabolic health congenital sucrase-isomaltase deficiency Greenland Inuit loss-of-function variants sucrase-isomaltase sucrose |
spellingShingle |
cardiometabolic health congenital sucrase-isomaltase deficiency Greenland Inuit loss-of-function variants sucrase-isomaltase sucrose Senftleber, Ninna Karsbæk Ramne, Stina Moltke, Ida Jørgensen, Marit Eika Albrechtsen, Anders Hansen, Torben Andersen, Mette K. Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives |
topic_facet |
cardiometabolic health congenital sucrase-isomaltase deficiency Greenland Inuit loss-of-function variants sucrase-isomaltase sucrose |
description |
Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are very rare in all surveyed populations around the globe, except the Arctic-specific c.273_274delAG loss-of-function (LoF) variant, which is common in the Greenlandic Inuit and other Arctic populations. In these populations, it is, therefore, possible to study people with loss of SI function in an unbiased way to elucidate the physiological function of SI, and investigate both short-term and long-term health effects of reduced small intestinal digestion of sucrose and starch. Importantly, a recent study of the LoF variant in Greenlanders reported that adult homozygous carriers have a markedly healthier metabolic profile. These findings indicate that SI inhibition could potentially improve metabolic health also in individuals not carrying the LoF variant, which is of great interest considering the massive number of individuals with obesity and type 2 diabetes worldwide. Therefore, the objectives of this review, are 1) to describe the biological role of SI, 2) to describe the metabolic impact of the Arctic SI LoF variant, 3) to reflect on potential mechanisms linking reduced SI function to metabolic health, and 4) to discuss what knowledge is necessary to properly evaluate whether SI inhibition is a potential therapeutic target for improving cardiometabolic health. |
format |
Article in Journal/Newspaper |
author |
Senftleber, Ninna Karsbæk Ramne, Stina Moltke, Ida Jørgensen, Marit Eika Albrechtsen, Anders Hansen, Torben Andersen, Mette K. |
author_facet |
Senftleber, Ninna Karsbæk Ramne, Stina Moltke, Ida Jørgensen, Marit Eika Albrechtsen, Anders Hansen, Torben Andersen, Mette K. |
author_sort |
Senftleber, Ninna Karsbæk |
title |
Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives |
title_short |
Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives |
title_full |
Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives |
title_fullStr |
Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives |
title_full_unstemmed |
Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives |
title_sort |
genetic loss of sucrase-isomaltase function:mechanisms, implications, and future perspectives |
publishDate |
2023 |
url |
https://portal.findresearcher.sdu.dk/da/publications/4ef1296a-cbd2-478d-adda-954fe24a4334 https://doi.org/10.2147/TACG.S401712 https://findresearcher.sdu.dk/ws/files/237562013/TACG_401712_genetic_loss_of_sucrase_isomaltase_function_mechanisms_imp.pdf |
genre |
Greenland greenlander* greenlandic inuit |
genre_facet |
Greenland greenlander* greenlandic inuit |
op_source |
Senftleber , N K , Ramne , S , Moltke , I , Jørgensen , M E , Albrechtsen , A , Hansen , T & Andersen , M K 2023 , ' Genetic Loss of Sucrase-Isomaltase Function : Mechanisms, Implications, and Future Perspectives ' , Application of Clinical Genetics , vol. 16 , pp. 31-39 . https://doi.org/10.2147/TACG.S401712 |
op_relation |
https://portal.findresearcher.sdu.dk/da/publications/4ef1296a-cbd2-478d-adda-954fe24a4334 |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.2147/TACG.S401712 |
container_title |
The Application of Clinical Genetics |
container_volume |
Volume 16 |
container_start_page |
31 |
op_container_end_page |
39 |
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1810447582358405120 |