15,509 research outputs found
Special Issue “Neurogenetics in Neurology”
No full textWith the rapid developments in molecular genetics and genomics, this Special Issue collates works outlining ultra-modern scientific research [...
Biomarkers in Hereditary Spastic Paraplegias
No full textHereditary spastic paraplegias (HSPs) represent a group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs, with no specific treatment available for patients. At the same time, the molecular diagnosis is complicated by the high genetic heterogeneity of this group of diseases, and it can be challenging due to overlapping clinical features with other conditions. Reliable biomarkers could play a fundamental role in diagnosis, prognosis, and therapeutic interventions for HSPs. For this reason, it is necessary to increase the search for biomarkers that can be used to rapidly classify HSPs, follow the natural history of the conditions, and monitor disease correction therapies. This article provides an overview of the current understanding of biomarkers in HSPs, including genetic, biochemical, and clinical biomarkers and new cell imaging-based approaches. In this manuscript, we aim to provide an overview of the current situation in HSP biomarkers, emphasizing the limitations and the necessity of conducting more studies in this field
RNA interference as a tool for Alzheimer's disease therapy
No full textRNA interference is a biological process that controls gene silencing in all living cells. Targeting the RNA interference system represents a novel therapeutic strategy able to intercede with multiple disease-related genes and to target many neurodegenerative diseases. Recently, the design of small interfering RNA-selective compounds has become more straightforward because of the significant progress made in predictive modeling for new therapeutic approaches. Although in vivo delivery of RNA interference remains a significant obstacle, new data show that RNAi blocks gene function in vivo, suggesting a potential therapeutic approach for humans. Some groups have demonstrated the efficacy of RNAi therapy in Alzheimer's disease. Results, based on animal models, show a down-regulation of the amyloid precursor protein and a consequent reduction of the amyloid-beta peptide accumulation in the brain or the inactivation of beta-secretase (BACE1). Indeed, lentiviral vectors expressing siRNAs targeting BACE1 reduce amyloid production and the neurodegenerative and behavioural deficit in APP transgenic mice. This review highlights recent advances in RNA research and focuses on strengths and weaknesses of RNAi compounds in Alzheimer's disease
- …
