التفاصيل البيبلوغرافية
| العنوان: |
Whole gene expression profile in blood reveals multiple pathways deregulation in R6/2 mouse model |
| المؤلفون: |
Diamanti, Daniela, Mori, Elisa, Incarnato, Danny, Malusa, Federico, Fondelli, Costanza, Magnoni, Letizia, Pollio, Giuseppe |
| بيانات النشر: |
BioMed Central Ltd. |
| سنة النشر: |
2013 |
| المجموعة: |
BioMed Central |
| مصطلحات موضوعية: |
Huntington disease, R6/2, Gene expression, Blood |
| الوصف: |
Background Huntington Disease (HD) is a progressive neurological disorder, with pathological manifestations in brain areas and in periphery caused by the ubiquitous expression of mutant Huntingtin protein. Transcriptional dysregulation is considered a key molecular mechanism responsible of HD pathogenesis but, although numerous studies investigated mRNA alterations in HD, so far none evaluated a whole gene expression profile in blood of R6/2 mouse model. Findings To discover novel pathogenic mechanisms and potential peripheral biomarkers useful to monitor disease progression or drug efficacy, a microarray study was performed in blood of R6/2 at manifest stage and wild type littermate mice. This approach allowed to propose new peripheral molecular processes involved in HD and to suggest different panels of candidate biomarkers. Among the discovered deregulated processes, we focused on specific ones: complement and coagulation cascades, PPAR signaling, cardiac muscle contraction, and dilated cardiomyopathy pathways. Selected genes derived from these pathways were additionally investigated in other accessible tissues to validate these matrices as source of biomarkers, and in brain, to link central and peripheral disease manifestations. Conclusions Our findings validated the skeletal muscle as suitable source to investigate peripheral transcriptional alterations in HD and supported the hypothesis that immunological alteration may contribute to neurological degeneration. Moreover, the identification of altered signaling in mouse blood enforce R6/2 transgenic mouse as a powerful HD model while suggesting novel disease biomarkers for pre-clinical investigation. |
| نوع الوثيقة: |
report |
| اللغة: |
English |
| العلاقة: |
http://www.biomarkerres.org/content/1/1/28Test |
| الإتاحة: |
http://www.biomarkerres.org/content/1/1/28Test |
| حقوق: |
Copyright 2013 Diamanti et al.; licensee BioMed Central Ltd. |
| رقم الانضمام: |
edsbas.2168E638 |
| قاعدة البيانات: |
BASE |
