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Archive - Mar 25, 2019

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Mutation in Gene (NUP160) for Nuclear Pore Complex Protein Linked to Steroid-Resistant Nephrotic Syndrome

Mutations in the NUP160 gene, which encodes one protein component of the nuclear pore complex nucleoporin 160 kD, are implicated in steroid-resistant nephrotic syndrome, an international team reports in an article published online on March 25, 2019 in the Journal of the American Society of Nephrology (JASN). Mutations in this gene have not been associated with steroid-resistant nephrotic syndrome previously. The JASN article is titled “Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome.” “Our findings indicate that NUP160 should be included in the gene panel used to diagnose steroid-resistant nephrotic syndrome to identify additional patients with homozygous or compound-heterozygous NUP160 mutations," says Zhe Han (photo), PhD, an Associate Professor in the Center for Genetic Medicine Research at Children's National in Washington, DC, and the study's senior author. The kidneys filter blood and ferry waste out of the body via urine. Nephrotic syndrome is a kidney disease caused by disruption of the glomerular filtration barrier, permitting a significant amount of protein to leak into the urine. While some types of nephrotic syndrome can be treated with steroids, the form of the disease that is triggered by genetic mutations does not respond to steroids. The patient covered in the JASN article had experienced persistently high levels of protein in the urine (proteinuria) from the time she was 7. By age 10, she was admitted to a Shanghai hospital and underwent her first renal biopsy, which showed some kidney damage. Three years later, she had a second renal biopsy showing more pronounced kidney disease. Treatment with the steroid prednisone; cyclophosphamide, a chemotherapy drug; and tripterygium wilfordii glycoside, a traditional therapy, all failed.