Contribution of "Omic" studies to the understanding of CADASIL. A systematic review
Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau)
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau)
Arboix, Adrià (Cerebrovascular Division. Department of Neurology. Hospital Universitari del Sagrat Cor. Universitat de Barcelona)

Data:	2021
Resum:	CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the epidermal growth factor (EGF)-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraines, psychiatric disorders, recurrent strokes, and dementia. Omic technologies allow the massive study of different molecules for understanding diseases in a non-biased manner or even for discovering targets and their possible treatments. We analyzed the progress in understanding CADASIL that has been made possible by omics sciences. For this purpose, we included studies that focused on CADASIL and used omics techniques, searching bibliographic resources, such as PubMed. We excluded studies with other phenotypes, such as migraine or leukodystrophies. A total of 18 articles were reviewed. Due to the high prevalence of NOTCH3 mutations considered pathogenic to date in genomic repositories, one can ask whether all of them produce CADASIL, different degrees of the disease, or whether they are just a risk factor for small vessel disease. Besides, proteomics and transcriptomics studies found that the molecules that are significantly altered in CADASIL are mainly related to cell adhesion, the cytoskeleton or extracellular matrix components, misfolding control, autophagia, angiogenesis, or the transforming growth factor β (TGFβ) signaling pathway. The omics studies performed on CADASIL have been useful for understanding the biological mechanisms and could be key factors for finding potential drug targets.
Ajuts:	Instituto de Salud Carlos III CP12/03298 Instituto de Salud Carlos III PI 11/0176 Instituto de Salud Carlos III CM18/00198
Nota:	Altres ajuts: Generación Project, Maestro Project, INVICTUS+ network
Nota:	Altres ajuts: Fundació la Marató de TV (Epigenesis Project)
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Matèria:	CADASIL ; Genomic ; Transcriptomic ; Proteomic
Publicat a:	International journal of molecular sciences, Vol. 22 Núm. 14 (february 2021) , p. 7357, ISSN 1422-0067

DOI: 10.3390/ijms22147357
PMID: 34298974

18 p, 2.5 MB

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