A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion

Monogenic diabetes is a rare type of diabetes resulting from mutations in a single gene. To date, most cases remain genetically unexplained, posing a challenge for accurate diabetes treatment, which leads to on a molecular diagnosis. Therefore, a trio exome scan was performed in a lean, nonsyndromic...

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Bibliographic Details
Published in:Molecular genetics and genomics : MGG 2020-09, Vol.295 (5), p.1253-1262
Main Authors: Alhaidan, Yazeid, Christesen, Henrik Thybo, Højlund, Kurt, Al Balwi, Mohammed A., Brusgaard, Klaus
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Apoptosis
Autoantibodies
Beta cells
Biochemistry
Biomedical and Life Sciences
Childhood
Children
Diabetes
Diabetes mellitus
Genes
Glucose transporter
Human Genetics
Insulin
Insulin secretion
Life Sciences
Microbial Genetics and Genomics
mRNA
Mutation
Original Article
Pancreas
Plant Genetics and Genomics
Secretion
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Summary:Monogenic diabetes is a rare type of diabetes resulting from mutations in a single gene. To date, most cases remain genetically unexplained, posing a challenge for accurate diabetes treatment, which leads to on a molecular diagnosis. Therefore, a trio exome scan was performed in a lean, nonsyndromic Caucasian girl with diabetes onset at 2½ years who was negative for autoantibodies. The lean father had diabetes from age 11 years. A novel heterozygous mutation in EDEM2 , c.1271G > A; p.Arg424His, was found in the proband and father. Downregulation of Edem2 in rat RIN-m β-cells resulted in a decrease in insulin genes Ins1 to 67.9% ( p  = 0.006) and Ins2 to 16.8% ( p  
ISSN:1617-4615
1617-4623
DOI:10.1007/s00438-020-01695-5