Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
Endocrinology and Metabolism
; : 296-301, 2017.
Article
ي En
| WPRIM
| ID: wpr-112716
المكتبة المسؤولة:
WPRO
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.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Computer Simulation
/
Computational Biology
/
Diabetes Complications
/
Diabetes Mellitus, Type 2
/
Diagnosis
/
Glucokinase
نوع الدراسة:
Diagnostic_studies
/
Prognostic_studies
المحددات:
Humans
اللغة:
En
مجلة:
Endocrinology and Metabolism
السنة:
2017
نوع:
Article