Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing.
10.3803/EnM.2017.32.2.296
- Author:
Eun Hee CHO
1
;
Jae Woong MIN
;
Sun Shim CHOI
;
Hoon Sung CHOI
;
Sang Wook KIM
Author Information
1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Kangwon National University School of Medicine, Chuncheon, Korea. sangwookkim@kangwon.ac.kr
- Publication Type:Brief Communication
- Keywords:
Glucokinase;
Maturity-onset diabetes of the young;
Computational biology
- MeSH:
Computational Biology;
Computer Simulation;
Diabetes Complications;
Diabetes Mellitus, Type 2*;
Diagnosis;
Glucokinase*;
Humans
- From:Endocrinology and Metabolism
2017;32(2):296-301
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
