Biomarker Analysis Services for Primary Biliary Cholangitis
Protheragen provides specialized biomarker analysis services for Primary Biliary Cholangitis (PBC) research and therapeutic development, offering a comprehensive biomarker panel designed to elucidate the complex pathophysiological mechanisms underlying this disease. Our services are exclusively focused on supporting drug discovery and preclinical development efforts, and do not include clinical diagnostic applications. By leveraging advanced analytical technologies and a deep understanding of disease biology, we enable researchers to accelerate the identification and validation of novel targets for PBC drug development.
The foundation of effective therapeutic intervention lies in the discovery and identification of robust, disease-relevant biomarkers. At Protheragen, our biomarker discovery services are integral to the drug development process, facilitating the pinpointing of molecular signatures and pathways implicated in Primary Biliary Cholangitis. We employ systematic screening strategies encompassing high-throughput data mining, bioinformatics, and experimental validation to identify and prioritize candidate biomarkers. Rigorous validation processes ensure that only the most promising candidates advance to further preclinical evaluation.
Multi Omics: Our multi-omics approach integrates cutting-edge technologies across genomics, transcriptomics, proteomics, and metabolomics to provide a holistic view of biological systems relevant to Primary Biliary Cholangitis. By comprehensively profiling DNA, RNA, protein, and metabolite biomarkers, we enable detailed characterization of disease mechanisms, immune dysregulation, and metabolic alterations. This approach facilitates the identification of molecular targets within key pathways such as immune cell signaling, cytokine networks, bile acid metabolism, and hepatic inflammation, all of which are central to PBC pathogenesis.
Candidate Validation: Candidate biomarker validation at Protheragen is driven by robust experimental and computational strategies. We assess the association of candidate markers with Primary Biliary Cholangitis pathophysiology through preliminary screening in relevant biological matrices and model systems. Criteria for prioritization include specificity to disease mechanisms, reproducibility, assay feasibility, and translational potential. Only candidates demonstrating strong, consistent associations with PBC-related processes are advanced for further development.
Diverse Technological Platforms: Protheragen offers custom assay development capabilities tailored to the unique requirements of PBC research. Our platforms are adaptable to project-specific needs, enabling the deployment of immunoassays, mass spectrometry, flow cytometry, molecular diagnostics, and histopathological imaging for comprehensive biomarker assessment. We ensure seamless integration of these technologies to maximize sensitivity, specificity, and throughput in biomarker analysis.
Immunoassays: We utilize enzyme-linked immunosorbent assays (ELISA), chemiluminescent immunoassays, and multiplex immunoassays for sensitive quantification of protein biomarkers in diverse sample types.
Mass Spectrometry: Our LC-MS/MS platforms enable targeted and untargeted proteomic and metabolomic analyses, supporting the identification and quantification of peptides, proteins, and metabolites relevant to PBC.
Flow Cytometry: High-parameter flow cytometry is employed for the characterization and quantification of immune cell populations and surface marker expression, providing insights into immune dysregulation in PBC.
Molecular Diagnostics: We offer nucleic acid-based analyses including qPCR, RT-PCR, and digital PCR for precise measurement of gene expression and detection of genetic variants associated with disease pathways.
Histopathology And Imaging: Advanced histopathological techniques and digital imaging are applied to assess tissue-specific biomarker expression and localization, supporting mechanistic studies in preclinical models.
Rigorous Method Validation: All analytical methods undergo rigorous validation in accordance with established guidelines to ensure reliability and reproducibility. We evaluate key performance characteristics such as sensitivity, specificity, linearity, precision, and accuracy. Comprehensive quality control measures, including the use of reference standards and controls, are implemented throughout the analytical workflow to maintain data integrity and consistency.
Our quantitative analysis capabilities enable precise measurement of biomarker concentrations across a range of biological matrices. By employing validated assays and standardized protocols, we generate robust, reproducible quantitative data to inform preclinical decision-making and advance therapeutic development for PBC.
Sample Analysis: Protheragen processes a variety of sample types, including serum, plasma, tissue lysates, and cell-based preparations. Standardized protocols are followed for sample handling, preparation, and storage to minimize variability and preserve analyte integrity. Quality assurance is maintained through rigorous sample tracking, process documentation, and regular proficiency testing.
High Throughput Capabilities: We leverage multiplexed analytical platforms to enable high-throughput biomarker screening and quantification. These platforms facilitate the simultaneous analysis of multiple analytes from limited sample volumes, increasing efficiency and conserving valuable preclinical samples. Automation and parallel processing further enhance throughput and scalability for large-scale studies.
| Gene Target | Biological Function | Application as a Biomarker |
|---|---|---|
| C-X3-C motif chemokine ligand 1 (CX3CL1) | C-X3-C motif chemokine ligand 1 (CX3CL1), also known as fractalkine, is a unique chemokine that exists in both membrane-bound and soluble forms. The membrane-bound form functions as an adhesion molecule, facilitating the firm attachment of leukocytes, particularly monocytes, natural killer (NK) cells, and T lymphocytes, to endothelial cells. The soluble form is generated by proteolytic cleavage and acts as a chemoattractant, guiding the migration of these immune cells to sites of inflammation or tissue injury. CX3CL1 primarily signals through its receptor, CX3CR1, and plays a significant role in mediating leukocyte trafficking, modulating inflammatory responses, and participating in neuroimmune interactions within the central nervous system. | CX3CL1 has been investigated as a biomarker in various pathological conditions characterized by inflammation and immune cell recruitment. Elevated levels of CX3CL1 have been detected in the serum, cerebrospinal fluid, or tissues of individuals with neuroinflammatory and neurodegenerative disorders, such as multiple sclerosis, Alzheimer's disease, and Parkinson's disease. Additionally, increased CX3CL1 expression has been observed in cardiovascular diseases, including atherosclerosis, and in certain inflammatory conditions, such as rheumatoid arthritis. Measurement of CX3CL1 concentrations has been used in research settings to assess disease activity, monitor inflammatory status, and explore its association with disease progression. |
| cathepsin S (CTSS) | Cathepsin S (CTSS) is a lysosomal cysteine protease belonging to the papain family. It is primarily expressed in antigen-presenting cells such as macrophages, dendritic cells, and B lymphocytes. CTSS plays a crucial role in the degradation of proteins within lysosomes, with a notable function in the processing of invariant chain (Ii) during major histocompatibility complex class II (MHC II) antigen presentation. This proteolytic activity facilitates the loading of antigenic peptides onto MHC II molecules for subsequent presentation to CD4+ T cells. Additionally, CTSS is involved in extracellular matrix remodeling through the degradation of matrix proteins, contributing to tissue remodeling and inflammatory responses. | Cathepsin S has been investigated as a biomarker in various pathological conditions, particularly those involving inflammation, immune dysregulation, and tissue remodeling. Elevated levels or activity of CTSS have been reported in several diseases, including atherosclerosis, rheumatoid arthritis, chronic obstructive pulmonary disease (COPD), and certain cancers. In these contexts, CTSS measurement in biological fluids or tissues has been explored for its potential to reflect disease presence, activity, or progression. |
| cytochrome P450 family 7 subfamily A member 1 (CYP7A1) | Cytochrome P450 family 7 subfamily A member 1 (CYP7A1) is a key enzyme in hepatic cholesterol metabolism. It catalyzes the rate-limiting step in the classic (neutral) pathway of bile acid synthesis by converting cholesterol to 7-alpha-hydroxycholesterol. This activity is critical for the regulation of cholesterol homeostasis and bile acid production in the liver. CYP7A1 expression and activity are tightly regulated by multiple factors, including bile acids, nuclear receptors (such as FXR and LXR), and various hormones, to maintain lipid and cholesterol balance within the body. | CYP7A1 has been investigated as a biomarker for hepatic cholesterol metabolism and bile acid synthesis. Alterations in its expression or activity have been associated with metabolic disorders such as nonalcoholic fatty liver disease (NAFLD), hypercholesterolemia, and certain types of liver dysfunction. Measurement of CYP7A1 mRNA or protein levels, as well as assessment of its enzymatic activity, has been utilized in research to evaluate hepatic cholesterol catabolism and to study the effects of drugs or dietary interventions on bile acid synthesis. |
| interleukin 12A (IL12A) | Interleukin 12A (IL12A) encodes the p35 subunit of the heterodimeric cytokine interleukin-12 (IL-12), which is formed by the combination of the IL12A (p35) and IL12B (p40) subunits. IL-12 is primarily produced by activated antigen-presenting cells such as dendritic cells, macrophages, and B cells. It plays a critical role in the regulation of immune responses, particularly by promoting the differentiation of naive T cells into Th1 cells, enhancing the cytotoxic activity of natural killer (NK) cells, and stimulating the production of interferon-gamma (IFN-γ). Through these actions, IL12A contributes to cell-mediated immunity and defense against intracellular pathogens. | IL12A expression and protein levels have been studied in the context of various immune-mediated conditions, including autoimmune diseases, infectious diseases, and certain cancers. Altered IL12A levels have been reported in association with disease activity or progression in disorders such as inflammatory bowel disease, rheumatoid arthritis, and some malignancies. Measurement of IL12A, either alone or as part of the IL-12 heterodimer, has been investigated as a potential indicator of immune activation or dysregulation in clinical and research settings. |
| interleukin 12B (IL12B) | Interleukin 12B (IL12B) encodes the p40 subunit, which pairs with either the p35 subunit (encoded by IL12A) to form interleukin-12 (IL-12) or with the p19 subunit (encoded by IL23A) to form interleukin-23 (IL-23). These cytokines are critical for immune regulation. IL-12 is involved in the differentiation of naive T cells into Th1 cells and stimulates the production of interferon-gamma (IFN-γ) by T and natural killer (NK) cells, thereby promoting cell-mediated immunity. IL-23 is important for the maintenance and proliferation of Th17 cells, which contribute to inflammatory responses. The p40 subunit is thus essential in regulating both innate and adaptive immune responses. | IL12B, particularly its p40 protein product, has been studied as a biomarker in various immune-mediated and inflammatory conditions. Elevated levels of IL-12p40 have been observed in autoimmune diseases such as psoriasis, Crohn's disease, and rheumatoid arthritis, as well as in certain infectious and neoplastic processes. Measurement of IL-12p40 in serum or tissue samples is utilized in research and clinical studies to assess disease activity, monitor response to therapy, and investigate immune pathophysiology. |
| interleukin 17A (IL17A) | Interleukin 17A (IL17A) is a pro-inflammatory cytokine produced primarily by a subset of T helper cells known as Th17 cells, as well as by other immune cell types. IL17A plays a key role in mediating immune responses against extracellular bacteria and fungi by inducing the expression of chemokines, cytokines, and antimicrobial peptides in various cell types, including epithelial and endothelial cells. It promotes the recruitment and activation of neutrophils at sites of infection or inflammation. IL17A is also involved in the regulation of tissue inflammation and has been implicated in the pathogenesis of several autoimmune and inflammatory diseases due to its ability to sustain chronic inflammatory responses. | IL17A has been utilized as a biomarker in research and clinical studies to assess immune activation and inflammation. Elevated levels of IL17A in blood, tissue, or other biological samples have been associated with a variety of inflammatory and autoimmune conditions, including psoriasis, rheumatoid arthritis, ankylosing spondylitis, and inflammatory bowel disease. Its measurement can provide information regarding disease activity, severity, or response to therapy in these contexts. |
| nuclear receptor subfamily 1 group H member 4 (NR1H4) | Nuclear receptor subfamily 1 group H member 4 (NR1H4), also known as Farnesoid X receptor (FXR), is a ligand-activated transcription factor belonging to the nuclear receptor superfamily. NR1H4 is primarily expressed in the liver, intestine, kidney, and adrenal gland. Its principal biological function is to regulate bile acid homeostasis by sensing bile acid levels and modulating the expression of genes involved in bile acid synthesis, conjugation, transport, and metabolism. NR1H4 activation represses the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, and induces genes involved in bile acid export and detoxification. Additionally, NR1H4 influences lipid and glucose metabolism, as well as inflammatory responses in hepatic and intestinal tissues. | NR1H4 expression and activity have been investigated as potential biomarkers in various liver-related conditions, including cholestatic liver diseases, non-alcoholic fatty liver disease (NAFLD), and hepatocellular carcinoma (HCC). Altered NR1H4 expression or function has been associated with disease progression and may reflect disturbances in bile acid metabolism or hepatic function. Measurement of NR1H4 levels or its downstream target genes in tissue or blood samples has been explored for disease characterization and prognosis in research and clinical studies. |
| programmed cell death 1 (PDCD1) | Programmed cell death 1 (PDCD1), commonly known as PD-1, encodes a cell surface receptor that is primarily expressed on activated T cells, B cells, and myeloid cells. PD-1 is an immune checkpoint protein that plays a critical role in regulating immune responses and maintaining self-tolerance. Upon binding to its ligands, PD-L1 or PD-L2, PD-1 transduces inhibitory signals that reduce T cell proliferation, cytokine production, and cytotoxic activity. This mechanism helps to prevent autoimmunity but can also limit effective immune responses against infections and tumors. | PDCD1 (PD-1) expression has been utilized as a biomarker in several clinical and research contexts. In oncology, PD-1 expression on tumor-infiltrating lymphocytes has been assessed to characterize the tumor microenvironment and predict responses to immune checkpoint inhibitor therapies targeting the PD-1/PD-L1 axis. PD-1 levels have also been studied in chronic infections and autoimmune diseases to evaluate immune exhaustion and dysfunction. Measurement of PD-1 expression is typically performed using immunohistochemistry, flow cytometry, or molecular assays. |
| tumor necrosis factor (TNF) | Tumor necrosis factor (TNF) is a pro-inflammatory cytokine primarily produced by activated macrophages, as well as other immune cells such as T lymphocytes and natural killer cells. TNF plays a central role in mediating inflammation, immune system regulation, and apoptosis. It exerts its effects by binding to two distinct receptors, TNFR1 and TNFR2, which activate intracellular signaling pathways resulting in the expression of adhesion molecules, chemokines, and other cytokines. TNF is involved in host defense against infections and contributes to the pathogenesis of various inflammatory and autoimmune diseases by promoting leukocyte recruitment, vascular permeability, and tissue destruction. | TNF levels are commonly measured in biological fluids such as serum, plasma, or synovial fluid to assess the presence and extent of inflammation. Elevated TNF concentrations have been observed in a range of disorders, including rheumatoid arthritis, inflammatory bowel disease, sepsis, and certain cancers. Measurement of TNF can aid in evaluating disease activity, monitoring therapeutic response, and studying the pathophysiology of inflammatory and immune-mediated conditions. |
| tyrosine kinase 2 (TYK2) | Tyrosine kinase 2 (TYK2) is a member of the Janus kinase (JAK) family of non-receptor tyrosine kinases. It plays a critical role in intracellular signaling pathways initiated by various cytokines, including type I interferons (IFN-α/β), interleukin-6 (IL-6), interleukin-10 (IL-10), and interleukin-12 (IL-12). Upon cytokine receptor engagement, TYK2 associates with the receptor's cytoplasmic domain and mediates phosphorylation events that activate downstream signaling molecules, particularly the STAT (signal transducer and activator of transcription) family proteins. These signaling cascades regulate immune cell development, differentiation, and function, and are important for host defense, inflammation, and hematopoiesis. | TYK2 expression levels, genetic variants, and activity have been studied in the context of autoimmune diseases, inflammatory disorders, and certain cancers. For example, specific TYK2 gene polymorphisms have been associated with susceptibility to autoimmune conditions such as systemic lupus erythematosus, psoriasis, and multiple sclerosis. In oncology, alterations in TYK2 signaling have been investigated for their potential correlation with disease progression or therapeutic response. Measurement of TYK2 status has been explored in research settings as a potential indicator of disease risk, prognosis, or response to targeted therapies, particularly JAK inhibitors. |
Explore Research Opportunities with Protheragen. Our biomarker research services for Primary Biliary Cholangitis are designed to support exploratory studies and preclinical drug development through advanced analytical platforms and scientific expertise. All biomarkers discussed are research targets only and are not claimed as validated or mandatory for any application. Our focus remains on the preclinical research stage, maintaining scientific objectivity and a commitment to rigorous, unbiased investigation.
We invite you to connect with Protheragen to discuss collaborative opportunities in biomarker research for Primary Biliary Cholangitis. Our approach emphasizes the exploratory nature of biomarker discovery and development, fostering scientific exchange and objective advancement in preclinical research.
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