UM File # 2417p1
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, constitutes the most frequent genetic cause for end-stage renal disease (ESRD) in children and young adults. NPHP is a progressive hereditary kidney disease marked by anemia, polyuria, renal loss of sodium, progressing to chronic renal failure, tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullary cysts. While distinct gene loci for nephronophthisis have been mapped to specific chromosomes, there is a great need for identification of the molecular basis of NPHP, as well as for improved diagnostics and treatments for NPHP.
Researchers at the University of Michigan have discovered new genes associated with NPHP kidney disease. This invention provides nucleic acids encoding NPHP genes, homologs, variants (e.g., polymorphisms and mutants), as well as additional alleles of NPHP. In addition, the present invention provides methods of identifying variant NPHP5 nucleic acid and amino acid sequences associated with disease states (e.g., Senior-Loken syndrome), as well as methods of screening for compounds that modulate NPHP5 activity or signaling. The invention further provides a kit comprising a reagent for detecting the presence or absence of a variant NPHP5 polypeptide or nucleic acid in a biological sample, and instructions for diagnosing Senior-Loken syndrome based on the presence or absence of a variant nephroretinin polypeptide or nucleic acid.
Applications • Molecular basis and diagnosis for nephronophthisis
Advantages • Proteins and nucleic acids of the present invention find use the diagnosis, characterization, and treatment of a wide variety of diseases, as all of the NPHP proteins thus identified are expressed in primary cilia and share features with genes mutated in various disease conditions.
NPHP Nucleic Acids and ProteinsTechnology #2417p1
Questions about this technology? Ask a Technology Manager
UM File # 2417p1