A5006321682- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Cancer-related molecular mechanisms research
- Molecular Biology Techniques and Applications
- Metabolomics and Mass Spectrometry Studies
- Microbial Metabolic Engineering and Bioproduction
Leiden University Medical Center
2012-2016
With several therapeutic approaches in development for Huntington’s disease, there is a need easily accessible biomarkers to monitor disease progression and therapy response. We performed next-generation sequencing-based transcriptome analysis of total RNA from peripheral blood 91 mutation carriers (27 presymptomatic and, 64 symptomatic) 33 controls. Transcriptome by DeepSAGE identified 167 genes significantly associated with clinical motor score patients. Relative previous studies, this...
Abstract Background Transcriptome analysis is of great interest in clinical research, where significant differences between individuals can be translated into biomarkers disease. Although next generation sequencing provides robust, comparable and highly informative expression profiling data, with several million tags per blood sample, reticulocyte globin transcripts constitute up to 76% total mRNA compromising the detection low abundant transcripts. We have removed from 6 human whole RNA...
Metabolic changes have been frequently associated with Huntington's disease (HD). At the same time peripheral blood represents a minimally invasive sampling avenue little distress to patients especially when brain or other tissue samples are difficult collect.We investigated levels of 163 metabolites in HD patient and control serum order identify related changes. Additionally, we integrated metabolomics data our previously published next generation sequencing-based gene expression from...
Many disease-associated variants affect gene expression levels (expression quantitative trait loci, eQTLs) and profiling using next generation sequencing (NGS) technology is a powerful way to detect these eQTLs.We analyzed 94 total blood samples from healthy volunteers with DeepSAGE gain specific insight into how genetic the of genes lengths 39-untranslated regions (39-UTRs).We detected previously unknown cis-eQTL effects for GWAS hits in disease-and physiology-associated traits.Apart...
<h3>Background</h3> The robustness and reproducibility of next generation sequencing technologies make them an excellent platform for gene expression profiling experiments. Despite the fact that choice tissue RNA extraction greatly depends on clinical or research question, whole blood has become increasingly popular choice. Especially in Huntington9s Disease where pathology originates a difficult to obtain samples (brain) can show promising results. <h3>Aims</h3> We have compared 100 HD...
<h3>Background</h3> Trinucleotide repeat expansion is the cause of at least 25 inherited neurological disorders, including Huntington9s disease (HD), fragile X mental retardation, and myotonic dystrophy (DM1). An interesting feature mutations that they are genetically unstable, meaning increased severity decreased age-of-onset observed as mutation transmitted from parent to offspring. Previous studies on spinocerebellar ataxia 7 DM1 have identified cis-acting DNA element CTCF be implicated...