A new study has brought into light that mutations in INF2 gene play a key role in the cause of kidney failure. The findings may aid with screening, prevention and therapy.
Focal segmental glomerulosclerosis (FSGS) attacks the kidney's filtering system and causes serious scarring.
One of the genes mutated in patients with hereditary, autosomal dominant FSGS is the INF2 gene, initially discovered by Elizabeth J. Brown and Martin R. Pollak (Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.
The investigators screened 54 families (78 patients) with a history of autosomal dominant FSGS and detected mutations in the INF2 gene in 17 pc of them. The mutations were located in one particular region of the gene that corresponds to a part of the INF2 protein that interacts with podocyte proteins.
This information might shed light on the mechanism behind INF2's involvement in the development of FSGS and could be helpful as researchers design drugs to prevent or treat the disease. One of these mutations appeared in only one of 84 patients with sporadic (nonhereditary) FSGS.
"INF2 is a major gene of autosomal dominant FSGS. Screening for INF2 mutations needs to be strongly considered in patients with an autosomal dominant familial history of FSGS," the authors concluded.
The study will be published in an upcoming issue of the Journal of the American Society Nephrology (JASN).