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New genes for risk and progression of rare brain disease identified
Date:6/19/2011

paring 1,114 autopsy-confirmed cases of PSP to 3,287 control subjects, researchers found significant genetic variations in three regions, at EIF2AK3, STX6 and MOBP. The study was replicated with a second set of subjects (1,051 clinically diagnosed with PSP, compared to 3,560 unique controls).

Three newly-identified genes include:

  • EIF2AK3 is a gene that encodes for endoplasmic reticulum unfolded protein response (UPR) which clears potentially toxic misfolded proteins. UPR disruption can influence PSP risk, according to researchers, and modifying the UPR has the potential to modify risk and possibly the course of disease.
  • STX6 encodes a protein called syntaxin 6 (Stx6) that typically shuttles vesicles within the cell, but genetic variation at STX6 may change intracellular transport or cause toxin absorption, contributing to PSP disease development.
  • The function of MOBP and the protein it encodes, MOBP, is still unclear, but the protein is found in brain regions affected in PSP and may be involved in myelin formation.

MAPT Gene Variations Show Risk

Previous work showed that genetic causes of tauopathies include mutations in the gene that encodes microtubule associated protein tau (MAPT). In this study, researchers confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The risk associated with the more common MAPT H1 haplotype was statistically stronger than the effect the APOE ε3/ε4 genotype has on Alzheimer's disease risk (95 percent of PSP subject chromosomes had the H1 polymorphism, compared to 77.5 percent of controls).

There is no current genetic test to measure PSP risk, but these findings are the first step in understanding the genes associated with risk for PSP, which could someday lead to the ability to predict more accurately who will get this disease. "Prediction will become important when we have preventative therapies
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Contact: Kim Menard
kim.menard@uphs.upenn.edu
215-200-2312
University of Pennsylvania School of Medicine
Source:Eurekalert

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