Mutation in the ADIPOQ gene found in family with diabetes and renal disease
Aug. 22, 2022
Adiponectin (ADIPOQ) is an adipocyte-derived hormone that promotes insulin sensitivity, inhibits cell death and decreases inflammation. Previous studies identified common variants in the ADIPOQ gene that have been associated with aberrant adiponectin levels, obesity, type 2 diabetes and diabetic kidney disease. In a recent study, the first multigenerational family was identified as harboring a protein-truncating mutation in the ADIPOQ gene, p.Gly93GlufsTer73, that cosegregated with diabetes and end-stage renal disease.