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Gasser Laboratory

eagle-i ID

http://eagle-i.itmat.upenn.edu/i/0000013c-d9ec-b560-f162-a2b280000000

Resource Type

  1. Laboratory

Properties

  1. Resource Description
    "We are studying a mutant gene which when homozygous leads to a lethal kidney disease in mice. These mice undergo a spontaneous autoimmune reaction which involves multiple immune pathways. We have cloned the relevant gene, and have found that it codes for a mitochondrial protein similar to trans-prenyltransferase. This enzyme is needed for isoprenylation of coenzyme Q (CoQ), and is now known as prenyl diphosphate synthase subunit 2 (Pdss2). The mutant mice have defective mitochondria, as demonstrated by ultrastructural analysis, and we believe that this defect leads to the death of glomerular podocytes. This in turn leads to an autoimmune response which involves both the tubular interstitium and the glomeruli. The kidney disease can be prevented to some extent by CoQ supplementation, and to an even greater extent by probucol. The mechanism by which probucol does this has not been fully elucidated, but we and our collaborators (Dr. Marni Falk at CHOP and Dr. Cathy Clarke at UCLA) have demonstrated that it increases the endogenous production of CoQ. In collaboration with Dr. Julie Blendy, Dr. Harry Ischiropoulos, and their students, we have demonstrated that these mutant mice also have neuromuscular defects that resemble Parkinson’s disease. We are currently working on several possible therapies which have the potential of treating these problems. The human disease with the greatest similarity to this phenotype is focal segmental glomerular sclerosis, or FSGS. It is well known that there is a significant genetic component to FSGS susceptibility, and in collaboration with a group at the NIH, we have obtained evidence that PDSS2 is one of the genes that is involved in this susceptibility."
  2. PI
    Gasser, David L., Ph.D.
  3. Affiliation
    Department of Genetics, University of Pennsylvania
  4. Website(s)
    http://www.med.upenn.edu/apps/faculty/index.php/g20000220/p11134
  5. Secondary affiliation
    Institute for Translational Medicine and Therapeutics
 
RDFRDF
 
Provenance Metadata About This Resource Record
  1. workflow state
    Published
  2. contributor
    fcoldren
  3. created
    2013-02-14T13:23:39.419-05:00
  4. creator
    fcoldren
  5. modified
    2013-02-19T09:42:25.107-05:00

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The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016