Mentor: Peter Igarashi, MD
Department: Internal Medicine/Nephrology
Room number: F5.122
Mail Code: 8856
Phone number: 82754
E-mail: peter.igarashi@utsouthwestern.edu
Project title: Pathogenesis and Treatment of Polycystic Kidney Disease
Human subjects IRB approved project number (where applicable): N/A
Animal subjects IRB approved project number (where applicable): 0862-07-07-1
Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects) All types of research are available.
Brief Description of Project:
We have several focused projects that would be appropriate for a resident research rotation. The projects relate to various aspects of the pathogenesis and treatment of polycystic kidney disease (PKD) and other inherited kidney diseases. Projects range from human genetics to animal models to studies in cultured kidney cells:
1. Genetics of congenital kidney malformations. This project will involve genotyping the TCF2 gene in a large collection of individuals with kidney and GU tract malformations. The hypothesis is that deletions of TCF2 cause cystic renal dysplasia and genital tract malformations.
2. Treatment of a mouse model of PKD. This project will involve analysis of knockout mice with mutations in the Pkd1 gene and treatment with drugs, such as pioglitazone, to determine whether cyst formation is affected. The hypothesis is that expression of SOCS3 is increased in PKD, and inhibition of its expression retards cyst formation.
3. Analysis of TCF2 target genes. This project will seek to identify genes that are regulated by TCF2 in the kidney and that are responsible for the cystic phenotype of humans and mice with TCF2 mutations.
Previous Research Activities or Publications with Housestaff:
Naderi, A.S., Farsian, F.N., and Igarashi, P. (2007) Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation. Am. J. Med. Sci. 334(3):219-221