Mutation of SLC40A1 gene in newly diagnosed type 2 diabetic patients with iron overload

VernacularTitle:新诊断2型糖尿病合并铁过载患者SLC40A1基因突变的研究
Author: Ruonan LI ; Kunquan GUO
Keywords: Iron overload; Diabetes mellitus,type 2; SLC40A1
From: Chinese Journal of Diabetes 2017;25(8):691-696
CountryChina
Language:Chinese
Abstract: Objective To investigate the incidence of iron overload (liver biopsy tissue Prussian blue staining was positive)in newly diagnosed type 2 diabetic patients (T2DM) and to analyze the SLC40A1 gene (NG_009027.1) mutation in 12 newly diagnosed T2DM with iron overload.Methods 198 patients with newly diagnosed T2DM were collected in our hospital from December 2014 to December 2015.12 of them had elevated ferritin and liver biopsy tissue Prussian blue staining was positive.DNA was extracted from the paraffin section of liver tissue and the exons of SLC40A1 gene were amplified by polymerase chain reaction (PCR).The purified products were sequenced in two directions.Results The incidence of iron overload in these newly diagnosed T2DM patients was about 6%.One point mutation c.663T> C was found on the sixth exon region of SLC40A1 gene in all these 12 T2DM patients with iron overload.It's encoded amino acid did not change (221V>V),meaning a samesense mutation.Conclusion Iron overload has a certain incidence in patients with newly diagnosed T2DM.Iron overload may not due to the mutations in SLC40A1 gene,which need further investigation.