Rare ADIPOQ amino acid substitution mutations have also been reported in individuals with diabetes and hypoadiponectinemia 12, 13.

Previous studies have identified common variants in or near ADIPOQ, the gene that encodes adiponectin, that are associated with aberrant adiponectin levels 7, obesity 8, type 2 diabetes 7, 9, and diabetic kidney disease 10, 11. Recently, the antiapoptotic, insulin-sensitizing, glucose lowering, anti-inflammatory, and anti-steatotic effects of adiponectin have been linked to its role in sphingolipid metabolism and its receptor-mediated activation of ceramidase activity, which reduce levels of lipotoxic ceramides 5, 6. Levels of adiponectin are decreased in obesity and may contribute to a chronic state of inflammation that leads to insulin resistance, type 2 diabetes, coronary artery disease, myocardial infarction, nonalcoholic steatohepatitis, and kidney disease 2, 3, 4.

Adiponectin forms an obligate trimer and circulates as trimers, hexamers, and high-molecular weight multimers that target various tissues and cell types, including liver, kidney, cardiac myocytes, and pancreatic β cells. Npj Genomic Medicine volume 7, Article number: 43 ( 2022)Īdiponectin is an adipocyte-derived hormone with pleiotropic actions that promote insulin sensitivity, inhibit cell death, and decrease inflammation 1.

A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia

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