Contribution of "Omic" Studies to the Understanding of Cadasil. A Systematic Review


Por: Muino, E, Fernandez-Cadenas, I, Arboix, A

Publicada: 1 jul 2021
Resumen:
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 beta (TGF beta) 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.

Filiaciones:
Muino, E:
 Hosp Santa Creu & Sant Pau, Inst Recerca, Stroke Pharmacogen & Genet Grp, Barcelona 08041, Spain

Fernandez-Cadenas, I:
 Hosp Santa Creu & Sant Pau, Inst Recerca, Stroke Pharmacogen & Genet Grp, Barcelona 08041, Spain

Arboix, A:
 Univ Barcelona, Hosp Univ Sagrat Cor, Dept Neurol, Cerebrovasc Div, Barcelona 08007, Spain
ISSN: 16616596
Editorial
MDPI, ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND, Suiza
Tipo de documento: Review
Volumen: 22 Número: 14
Páginas:
WOS Id: 000676711700001
ID de PubMed: 34298974
imagen Green Published, gold

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