Papillorenal syndrome pathophysiology: Difference between revisions
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Revision as of 13:49, 28 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The known cause of the Papillorenal syndrome is mutation of a copy of the PAX2 gene, a gene which is important in the development of both the eye and the kidney. However, pproximately half of patients with Papillorenal syndrome do not have defects in the Pax2. This suggests that other genes play a role in the development of the syndrome, though few downstream effectors of Pax2 have been identified.
Pathophysiology
Pax2 mutations
The majority of mutations occur in exons 2,3 and 4, which encode the paired domain and frame shift mutations that lead to a null allele.[1] The missense mutations appear to disrupt hydrogen bonds, leading to decreased transactivation of Pax2, but do not seem to effect nuclear localization, steady state mRNA levels, or the ability of Pax2 to bind to its DNA consensus sequence.[2] Mutations related to the disease have also been noted in exons 7,8, and 9, with milder phenotypes than the other mutations.[1]
Recent studies
Pax2 is expressed in the kidney, midbrain, hindbrain, cells in the spinal column, developing ear and developing eye. Homozygous negative Pax2 mutation is lethal, but heterozygote mutants showed many symptoms of papillorenal syndrome, including optic nerve dysplasia with abnormal vessels emerging from the periphery of the optic cup and small dysplasic kidneys. It is shown that Pax2 is under upstream control of Shh in both mice and zebrafish, which is expressed in the precordal plate.[1]
References
- ↑ 1.0 1.1 1.2 http://www.d.umn.edu/biology/documents/Schimmenti.pdf)
- ↑ Alur RP, Vijayasarathy C, Brown JD; et al. (2010). "Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human". PLoS Genet. 6 (3): e1000870. doi:10.1371/journal.pgen.1000870. PMC 2832668. PMID 20221250. Unknown parameter
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