Title:Genetic, Epigenetic and Biological Effects of Zinc Transporter (SLC30A8) in Type 1 and Type 2 Diabetes
Volume: 13
Issue: 2
Author(s): Harvest F. Gu
Affiliation:
Keywords:
SLC30A8, DNA methylation, genetic association, insulin, type 1 diabetes, type 2 diabetes.
Abstract: Zinc is essential for the proper storage, secretion and action of insulin, while solute carrier
family 30 members (SLC30A8) transports Zinc from cytoplasm to insulin secretory granules in the
pancreatic beta-cells. Accumulating genetic studies have demonstrated that the common single nucleotide
polymorphisms in the SLC30A8 gene confer the risk susceptibility to type 2 diabetes. The
rare loss-of-function variants in the gene, however, may have protective effects in the disease.
SLC30A8 is highly expressed in the pancreas, particularly in the islets of Langerhans. Clinical investigations
have implicated that SLC30A8 acts as a new antigenic target in the patients with type 1 diabetes.
Biological experimental evidence has indicated that this gene expression at both mRNA and
protein levels is down-regulated in diabetic pancreatic islets. Furthermore, epigenetic analysis
showed that DNA methylation levels in the SLC30A8 gene are increased in type 2 diabetes patients,
which complies with the decreased gene expression. In this review, biological relevance and bioinformatics
of Zinc transport SLC30A8 are described. Genetic and epigenetic effects of the SLC30A8
gene in type 1 and type 2 diabetes are summarized. Further investigation of SLC30A8 interactions
with Zinc and other functional partners is discussed.
