Katie Weihbrecht and Jason Weirather will present their research on May 17th 2012

Katie Weihbrecht Research Abstract

Characterization of NPHP10 and its interactors

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders with preferential retinal, renal, and cerebellar degeneration. The localization to the ciliary-centrosomal complex of proteins mutated in cystic kidney disease provided a coalescing mechanism for NPHP-RC, delineating them as ciliopathies. Recently, NPHP10 was identified in NPHP-RC affected families and is now known to interact with oral-facial-digital syndrome 1, a gene commonly associated with NPHP-RC. NPHP10 is also known to localize to the centrioles and loss of this gene causes kidney cysts and body axis defects in zebrafish, as well as inducing cell polarity defects in three-dimensional renal cell cultures. Little else is known about the interacting partners of this protein or how it leads to NPHP. The goal of this project is to determine the molecular function of NPHP10 by determining its interacting partners. We will then characterize the interaction and determine how changes in these interactions lead to the observed phenotypes by utilizing biochemical and genetic approaches.

Jason Weirather’s Research abstract

Leishmania infantum chagasi is a protozoan parasite, and causative agent of visceralizing leishmaniasis (VL) in humans.  After transmission from a sand fly vector, the majority of infections remain asymptomatic or subclinical (>75%), but the remainder go on to develop VL.  Asymptomatic individuals develop a positive DTH (delayed type hypersensitivity) skin test response indicating an appropriate immune response to exposure to L. chagasi.  We explored host genetic factors influencing the response to L. i. chagasi infection within families that included both symptomatic and asymptomatic individuals from an endemic region in Northeast Brazil.  Based on a prior genome-wide scan, SNP markers were used to fine map regions of chromosomes 9, 15, and 19 as well as 34 candidate genes.  The data highlight several potential genes associated with the outcome of infection.  These studies provide the background to better understand host genetic factors contributing to susceptibility and resistance to VL.

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