Diabetic nephropathy affects about 30% of individuals with diabetes [1,2]. The disease is characterized by an initial abnormal loss of protein with urine and a gradual loss of renal function. Recent studies have been able to identify genetic mutations predisposing to diabetic nephropathy.
The NEPHRO panel analyzes 8 genetic polymorphisms (or SNPs) whose presence is associated with a greater probability of developing diabetic nephropathy. Genes with variants studied within the NEPHRO panel are listed hereafter:
- ELMO1: gene that encodes a protein involved in phagocytosis and having effects on cell morphology.
- LIMK2: gene that encodes an enzyme involved in the interactions with DNA and in cytoskeleton reorganization.
- PKCB1: gene that encodes a protein exposed on the surface of T cells.
- AFF3: gene that encodes a transcriptional activator having a role in the development of lymphoid tissue.
- TCF7L2: gene that encodes a protein with a key role in cellular signaling.
- UNC13B: gene expressed by the renal cortex and encoding a diacylglycerol binding protein. High blood glucose levels induce a higher production of diacylglycerol, a molecule inducing apoptosis (programmed cell death).
- eNOS: gene that encodes the production of an enzyme that synthesizes Nitric oxide, which plays a central role in the maintenance of vascular homeostasis.
- FRMD3: gene that encodes a membrane protein whose biological function is not yet clarified
Recommended for anyone who wants to know genetic predisposition to develop diabetic nephropathy.
- Ritz E, Zeng XX, Rychlik I (2011) Clinical manifestation and natural history of diabetic nephropathy. Contrib Nephrol 170: 19–27.
- Krolewski AS, Warram JH, Christlieb AR, Busick EJ, Kahn CR (1985) The changing natural history of nephropathy in type I diabetes. Am JMed 78: 785–794.