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Downregulation of genes involved in metabolism and oxidative stress in the peripheral leukocytes of Huntington's disease patients.

Authors: Chang, KH  Chen, YC  Wu, YR  Lee, WF  Chen, CM 
Citation: Chang KH, etal., PLoS One. 2012;7(9):e46492. doi: 10.1371/journal.pone.0046492. Epub 2012 Sep 27.
Pubmed: (View Article at PubMed) PMID:23029535
DOI: Full-text: DOI:10.1371/journal.pone.0046492

BACKGROUND: Huntington's disease (HD) is caused by expanded CAG repeats encoding a polyglutamine tract in the huntingtin (HTT) protein. A number of differentially-expressed protein molecules have been identified in striatum of HD animal models. Here we examined if the expression changes could be visualized in the peripheral leukocytes of HD patients and pre-symptomatic HD (PreHD) carriers. METHODS AND FINDINGS: The expression levels of 17 candidate genes that differentially expressed in striatum between transgenic HD and wild-type mice in literature were measured in the peripheral leukocytes of 4 PreHD carriers, 16 HD patients and 20 healthy controls. Four genes majorly involved in metabolism and oxidative stress response, including AHCY1, ACO2, OXCT1 and CAP1, demonstrated consistent downregulation in peripheral leukocytes of both PreHD carriers and HD patients, while UCP2 was only down-regulated in HD patients. CONCLUSION: These results provide potential peripheral biomarkers to indicate disease onset in preclinical stage, and to monitor the efficacy of early treatment. Further studies of a large series of preHD carriers and symptomatic HD patients will be warranted to verify the findings and examine if these markers correlate with clinical features.


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RGD Object Information
RGD ID: 10045655
Created: 2015-06-15
Species: All species
Last Modified: 2015-06-15
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.