Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Wh...
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| Format: | Article |
| Language: | English |
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Korean Endocrine Society
2017-05-01
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| Series: | Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | https://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-32-296.pdf |
| _version_ | 1818757665332920320 |
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| author | Eun-Hee Cho Jae Woong Min Sun Shim Choi Hoon Sung Choi Sang-Wook Kim |
| author_facet | Eun-Hee Cho Jae Woong Min Sun Shim Choi Hoon Sung Choi Sang-Wook Kim |
| author_sort | Eun-Hee Cho |
| collection | DOAJ |
| description | Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico modeling. We identified two mutations: p.Leu30Pro and p.Ser383Leu. In silico analyses predicted that these mutations result in structural conformational changes, protein destabilization, and thermal instability. Our findings may inform future GCK-MODY diagnosis; furthermore, the two mutations detected in two Korean families with GCK-MODY improve our understanding of the genetic basis of the disease. |
| first_indexed | 2024-12-18T06:14:33Z |
| format | Article |
| id | doaj.art-c773c08894534ceaac4ab60f37478414 |
| institution | Directory Open Access Journal |
| issn | 2093-596X 2093-5978 |
| language | English |
| last_indexed | 2024-12-18T06:14:33Z |
| publishDate | 2017-05-01 |
| publisher | Korean Endocrine Society |
| record_format | Article |
| series | Endocrinology and Metabolism |
| spelling | doaj.art-c773c08894534ceaac4ab60f374784142022-12-21T21:18:18ZengKorean Endocrine SocietyEndocrinology and Metabolism2093-596X2093-59782017-05-0132229630110.3803/EnM.2017.32.2.296Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome SequencingEun-Hee Cho0Jae Woong Min1Sun Shim Choi2Hoon Sung Choi3Sang-Wook Kim4Division of Endocrinology and Metabolism, Department of Internal Medicine, Kangwon National University School of Medicine, Chuncheon, Korea.Department of Medical Biotechnology, Institute of Bioscience and Biotechnology, Kangwon National University College of Biomedical Science, Chuncheon, Korea.Department of Medical Biotechnology, Institute of Bioscience and Biotechnology, Kangwon National University College of Biomedical Science, Chuncheon, Korea.Division of Endocrinology and Metabolism, Department of Internal Medicine, Kangwon National University School of Medicine, Chuncheon, Korea.Division of Endocrinology and Metabolism, Department of Internal Medicine, Kangwon National University School of Medicine, Chuncheon, Korea.Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico modeling. We identified two mutations: p.Leu30Pro and p.Ser383Leu. In silico analyses predicted that these mutations result in structural conformational changes, protein destabilization, and thermal instability. Our findings may inform future GCK-MODY diagnosis; furthermore, the two mutations detected in two Korean families with GCK-MODY improve our understanding of the genetic basis of the disease.https://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-32-296.pdfGlucokinaseMaturity-onset diabetes of the youngComputational biology |
| spellingShingle | Eun-Hee Cho Jae Woong Min Sun Shim Choi Hoon Sung Choi Sang-Wook Kim Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing Endocrinology and Metabolism Glucokinase Maturity-onset diabetes of the young Computational biology |
| title | Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing |
| title_full | Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing |
| title_fullStr | Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing |
| title_full_unstemmed | Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing |
| title_short | Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing |
| title_sort | identification of maturity onset diabetes of the young caused by glucokinase mutations detected using whole exome sequencing |
| topic | Glucokinase Maturity-onset diabetes of the young Computational biology |
| url | https://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-32-296.pdf |
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