MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

Encarnação, Marisa; David, Hugo; Coutinho, Maria Francisca; Moreira, Luciana; Alves, Sandra

http://hdl.handle.net/10400.18/9100

Utilize este identificador para referenciar este registo.

Nome:	Descrição:	Tamanho:	Formato:
biomedicines-11-02615-v2.pdf		1.21 MB	Adobe PDF	Ver/Abrir

Contacte-nos

Autores

Encarnação, Marisa

David, Hugo

Coutinho, Maria Francisca

Moreira, Luciana

Alves, Sandra

Resumo(s)

Lipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic disorders. MicroRNAs (miRNAs), in particular, are a family of post-transcriptional gene repressors associated with the regulation of many genes that encode proteins involved in multiple lipid metabolism pathways, thereby influencing their homeostasis. Thus, this class of non-coding RNAs (ncRNAs) has emerged as a promising therapeutic target for the treatment of lipid-related metabolic alterations. Most of these miRNAs act at an intracellular level, but in the past few years, a role for miRNAs as intercellular signaling molecules has also been uncovered since they can be transported in bodily fluids and used as potential biomarkers of lipid metabolic alterations. In this review, we point out the current knowledge on the miRNA signature in a lysosomal storage disorder associated with lipid dysfunction, Niemann-Pick type C, and discuss the potential use of miRNAs as biomarkers and therapeutic targets for RNA-based therapies.

Palavras-chave

Niemann-Pick Type C RNA-based Therapies Biomarkers Cholesterol Trafficking Lipid Storage Disorders Metabolism MicroRNA Niemann Pick Tipo C Doenças Lisossomais de Sobrecarga Doenças Genéticas Genética Humana