Proteogenomics Analysis
Researchers at Progenome, LLC have identified statistically significant over-expressed and under-expressed genes and proteins in blood, relative to reference expression levels, for patients with this syndrome. All gene expression measurements are done “in house” while proteomic measurements are done at nationally available testing facilities such as Quest Diagnostics and LabCorp.
Gene expression measurements are taken by extracting total ribonucleic acid (tRNA) from peripheral blood cells (PBLs). Our platform for these gene measurements has traditionally been whole genome microarrays and a newer “digital” technology platform made by Nanostring Technologies. Both of these technologies make use of nucleic acid probes complementary to mRNA and micro-RNA sequences of interest. ProteoGenomics is now shifting to next generation sequencing (NGS) as their platform for gene expression analysis, or RNAseq.
Proteomics
Objective diagnosis of CIRS is a critical first step in applying restorative therapies. Several irregularities in protein expression have now been identified in patients with CIRS, dominated by (1) lack of regulation of host inflammatory response as evidenced by deficiency of alpha melanocyte stimulating hormone (MSH) and/or vasoactive intestinal polypeptide (VIP); (2) presence of more than one of Th1 responses (pro-inflammatory); Th2 responses (anti-inflammatory); Th17 responses (tied to transforming growth factor beta-1 (TGFβ-1)); coagulation abnormalities, especially abnormalities in von Willebrand’s profile; activation of complement split products; activation of elements under regulation of hypoxia inducible factor including vascular endothelia growth factor (VEGF) and erythropoietin; abnormal regulation of ACTH responses to cortisol and ADH responses to osmolality.
Genomics
The genomics investigation of CIRS has focused on the expression of genes, or transcriptomics. Several irregularities in gene expression have now been identified in patients with CIRS, dominated by genes involved in the production of immunoglobulins. Additionally, a handful of micro RNAs have been identified in patients, including Let7 MIR23 family members.
Highlights
......traditionally been whole genome microarrays and a newer “digital” technology platform made by Nanostring Technologies.
Several irregularities in protein expression have now been identified in patients with CIRS...