Biomarker Analysis Services for Retinitis Pigmentosa
Protheragen offers specialized biomarker analysis services dedicated to advancing retinitis pigmentosa research and drug discovery. Our comprehensive biomarker panel is designed to facilitate a deeper understanding of disease pathophysiology, supporting the development of innovative therapeutics for inherited retinal disorders. All services provided are exclusively focused on drug discovery and preclinical development stages—no clinical diagnostic services are offered.
Effective therapeutic intervention for retinitis pigmentosa begins with the accurate discovery and identification of relevant biomarkers. At Protheragen, our biomarker discovery services are integral to the drug development process, enabling the identification of molecular targets that underpin disease mechanisms. We employ a systematic approach that includes high-throughput screening of candidate genes and proteins, rigorous validation using preclinical models, and cross-referencing with established genetic and functional data. This process ensures that only the most promising biomarker candidates are advanced for further study in therapeutic development pipelines.
Multi Omics: Our multi-omics approach leverages state-of-the-art genomics, transcriptomics, and proteomics platforms to provide a comprehensive analysis of biological systems implicated in retinitis pigmentosa. Through integrated analysis of DNA, RNA, protein, and metabolite profiles, we identify novel and established biomarkers relevant to photoreceptor degeneration and retinal disease progression. This holistic strategy enables the elucidation of key disease pathways, such as phototransduction, ciliary trafficking, and mRNA splicing, which are central to the pathophysiology of retinitis pigmentosa.
Candidate Validation: Candidate biomarker validation at Protheragen involves a combination of in vitro, ex vivo, and in silico strategies to confirm biological relevance and disease association. We assess the relationship between candidate biomarkers and retinitis pigmentosa pathophysiology by evaluating genetic variants, expression patterns, and functional effects in retinal models. Preliminary screening processes include specificity, sensitivity, and reproducibility assessments. Criteria for prioritizing candidates include strong literature support, robust association with disease phenotypes, and potential utility in preclinical drug development.
Diverse Technological Platforms: Protheragen excels in custom assay development, adapting technological platforms to meet specific research needs in retinitis pigmentosa. Our capabilities span immunoassay design, mass spectrometry workflows, flow cytometry panels, molecular diagnostics, and advanced histopathology imaging. Each platform is tailored to the unique requirements of the biomarker under investigation, ensuring optimal performance and data quality.
Immunoassays: We provide ELISA, chemiluminescent, and multiplex immunoassays for quantitative and qualitative detection of protein biomarkers relevant to retinal degeneration.
Mass Spectrometry: Our LC-MS/MS platforms enable sensitive and specific quantification of proteins, peptides, and metabolites implicated in retinitis pigmentosa.
Flow Cytometry: We utilize flow cytometry for cell-based analysis of biomarker expression and functional assays in retinal cell populations.
Molecular Diagnostics: Our molecular diagnostic tools include PCR, qPCR, and next-generation sequencing for the detection of gene mutations and expression changes.
Histopathology And Imaging: We employ advanced histopathology and imaging techniques to visualize biomarker localization and assess morphological changes in retinal tissues.
Rigorous Method Validation: All analytical methods undergo rigorous validation according to established guidelines. Performance characteristics such as sensitivity, specificity, accuracy, precision, and reproducibility are systematically evaluated. Comprehensive quality control measures are implemented at every stage to ensure data reliability and integrity, supporting robust preclinical research outcomes.
Protheragen's quantitative analysis capabilities enable the precise measurement of biomarker levels across diverse sample types. We utilize validated protocols and calibrated instrumentation to ensure accuracy and reproducibility in quantification, facilitating reliable interpretation of biomarker dynamics in preclinical studies.
Sample Analysis: We handle a wide range of sample types, including retinal tissue, cell lysates, and biofluids relevant to retinitis pigmentosa research. Our analysis protocols are meticulously optimized for each sample type, incorporating stringent quality control steps to minimize variability and maximize data fidelity.
High Throughput Capabilities: Our high-throughput analytical platforms support multiplexed biomarker analysis, enabling efficient processing of large sample cohorts. This approach conserves valuable samples, reduces turnaround time, and enhances the scalability of biomarker discovery and validation efforts.
| Gene Target | Biological Function | Application as a Biomarker |
|---|---|---|
| ATP binding cassette subfamily A member 4 (ABCA4) | ATP binding cassette subfamily A member 4 (ABCA4) is a transmembrane protein that functions as an ATP-dependent transporter. It is predominantly expressed in the retina, specifically in photoreceptor cells. ABCA4 is involved in the transport of all-trans-retinal and its derivatives across photoreceptor disc membranes, facilitating the clearance of potentially toxic retinoid compounds generated during the visual cycle. This activity is essential for maintaining photoreceptor cell integrity and normal visual function. Mutations in the ABCA4 gene are associated with impaired transport activity, leading to the accumulation of toxic retinoid byproducts and contributing to the pathogenesis of several retinal degenerative diseases. | ABCA4 has been utilized as a genetic biomarker in the context of inherited retinal disorders. Mutations and sequence variants in the ABCA4 gene are commonly identified in patients with conditions such as Stargardt disease (STGD1), cone-rod dystrophy, and some forms of retinitis pigmentosa. Genetic testing for ABCA4 variants is applied in the molecular diagnosis, classification, and risk assessment of these retinal diseases. The presence of pathogenic ABCA4 mutations can assist in confirming clinical diagnoses and informing prognosis. |
| RP1 axonemal microtubule associated (RP1) | RP1 (Retinitis Pigmentosa 1) encodes a protein that is localized to the photoreceptor connecting cilium and axoneme in the retina. It plays a critical role in the organization and stability of microtubules within the photoreceptor cells, particularly in the outer segment where phototransduction occurs. RP1 is involved in maintaining the correct structure and function of photoreceptor axonemes, which are essential for the proper formation and maintenance of the outer segment discs necessary for vision. Mutations in RP1 are associated with inherited retinal degenerative diseases, such as autosomal dominant retinitis pigmentosa. | RP1 has been used as a genetic biomarker in the context of inherited retinal diseases, particularly retinitis pigmentosa. The identification of pathogenic variants in RP1 is applied in molecular diagnosis, genetic counseling, and in some cases, in the stratification of patients for clinical studies. Its use as a biomarker is primarily in the context of genetic testing panels for retinal dystrophies. |
| nuclear receptor subfamily 2 group E member 3 (NR2E3) | Nuclear receptor subfamily 2 group E member 3 (NR2E3) is an orphan nuclear receptor predominantly expressed in the retina, particularly in photoreceptor cells. NR2E3 plays a crucial role in retinal development and photoreceptor cell differentiation by acting as a transcription factor. It is involved in the regulation of photoreceptor-specific gene expression, promoting rod photoreceptor development while repressing cone photoreceptor genes. NR2E3 interacts with other transcription factors, such as NRL and CRX, to coordinate the proper formation and maintenance of rod cells. Mutations in NR2E3 have been associated with several inherited retinal disorders, including enhanced S-cone syndrome, Goldmann-Favre syndrome, and certain forms of retinitis pigmentosa. | NR2E3 has been utilized as a molecular marker in the context of inherited retinal diseases. Genetic testing for mutations in the NR2E3 gene can assist in the diagnosis and classification of retinal dystrophies, particularly those characterized by abnormal photoreceptor development or function. NR2E3 mutation analysis is commonly included in gene panels for inherited retinal disorders to help distinguish between different disease subtypes and inform genetic counseling. Additionally, NR2E3 expression patterns have been studied in retinal tissue to aid in understanding disease mechanisms and photoreceptor cell fate. |
| phosphodiesterase 6A (PDE6A) | Phosphodiesterase 6A (PDE6A) encodes the alpha subunit of the rod photoreceptor cGMP-specific phosphodiesterase enzyme complex, which is essential for the phototransduction cascade in the retina. This enzyme hydrolyzes cyclic guanosine monophosphate (cGMP) to GMP, thereby regulating cGMP levels in rod photoreceptors. The decrease in cGMP concentration leads to the closure of cGMP-gated ion channels, resulting in hyperpolarization of the photoreceptor cell membrane in response to light. Proper function of PDE6A is critical for normal visual signal transduction and adaptation to changes in light. | Mutations or altered expression of PDE6A have been associated with certain inherited retinal degenerative diseases, most notably autosomal recessive retinitis pigmentosa (arRP). Detection of pathogenic variants in PDE6A can be used in the molecular diagnosis of these conditions, aiding in genetic counseling and disease characterization. Additionally, PDE6A status may be investigated in research contexts to help differentiate subtypes of retinal dystrophies and to inform prognosis. |
| phosphodiesterase 6B (PDE6B) | Phosphodiesterase 6B (PDE6B) encodes the beta subunit of the rod photoreceptor cGMP-specific phosphodiesterase enzyme complex. This enzyme plays a critical role in the phototransduction cascade within retinal rod cells by hydrolyzing cyclic guanosine monophosphate (cGMP) to 5'-GMP. The reduction in cGMP concentration leads to the closure of cGMP-gated ion channels, resulting in the hyperpolarization of photoreceptor cells in response to light. Proper function of PDE6B is essential for normal visual signal transduction and photoreceptor cell survival. | Mutations in the PDE6B gene have been identified in individuals with inherited retinal degenerative diseases, most notably autosomal recessive retinitis pigmentosa (RP) and some forms of congenital stationary night blindness. Genetic analysis of PDE6B is utilized in the molecular diagnosis of these conditions, aiding in the identification of causative mutations in affected individuals and families. PDE6B status may also be used in research settings to stratify patients for clinical studies or to investigate genotype-phenotype correlations in retinal disorders. |
| pre-mRNA processing factor 31 (PRPF31) | Pre-mRNA processing factor 31 (PRPF31) is a component of the spliceosome, specifically the U4/U6-U5 tri-snRNP complex, which plays a critical role in the removal of introns from pre-messenger RNA (pre-mRNA) during the process of splicing. PRPF31 is essential for the assembly and stability of the spliceosomal complex and is involved in the proper maturation of pre-mRNA into functional messenger RNA (mRNA). Mutations in the PRPF31 gene have been shown to disrupt normal splicing activity, particularly in retinal cells, and are associated with autosomal dominant retinitis pigmentosa (RP11). The protein is ubiquitously expressed but appears to have a heightened functional importance in retinal photoreceptors. | PRPF31 has been studied as a genetic biomarker in the context of inherited retinal diseases, particularly autosomal dominant retinitis pigmentosa (RP11). Genetic testing for mutations in the PRPF31 gene can assist in the molecular diagnosis of RP11 and in distinguishing it from other forms of retinitis pigmentosa. The identification of PRPF31 mutations can also inform genetic counseling and risk assessment in affected families. Its application as a biomarker is primarily in the field of inherited retinal dystrophies. |
| retinitis pigmentosa GTPase regulator (RPGR) | The retinitis pigmentosa GTPase regulator (RPGR) gene encodes a protein that is primarily localized to the connecting cilium of photoreceptor cells in the retina. RPGR functions as a regulator of ciliary trafficking, playing a critical role in the maintenance and function of photoreceptors by facilitating the transport of proteins between the inner and outer segments. It interacts with several other ciliary proteins and is involved in the regulation of microtubule organization and ciliary stability. Mutations in RPGR disrupt these processes, leading to photoreceptor degeneration. | RPGR is utilized in the molecular genetic diagnosis of inherited retinal diseases, particularly X-linked retinitis pigmentosa (XLRP). Detection of pathogenic variants in RPGR can aid in the classification of disease subtypes, inform genetic counseling, and support carrier detection in at-risk individuals. Its mutation status is also used in patient selection for gene-targeted therapeutic studies in XLRP. |
| rhodopsin (RHO) | Rhodopsin (RHO) is a light-sensitive G protein-coupled receptor (GPCR) located in the rod photoreceptor cells of the retina. It plays a central role in the visual phototransduction pathway by absorbing photons and initiating the molecular cascade that leads to vision in low-light (scotopic) conditions. Upon photon absorption, rhodopsin undergoes a conformational change, activating the associated G protein transducin, which subsequently triggers a signaling cascade resulting in hyperpolarization of the photoreceptor cell and transmission of visual signals to the brain. | Mutations and alterations in the RHO gene are associated with several inherited retinal diseases, most notably autosomal dominant retinitis pigmentosa (adRP) and, less commonly, congenital stationary night blindness. Detection of RHO gene variants is utilized in the genetic diagnosis and classification of these retinal degenerative disorders. RHO is also used in research settings to study mechanisms of photoreceptor degeneration and to monitor therapeutic interventions targeting inherited retinal diseases. |
| small nuclear ribonucleoprotein U5 subunit 200 (SNRNP200) | Small nuclear ribonucleoprotein U5 subunit 200 (SNRNP200) is a core component of the U5 small nuclear ribonucleoprotein (snRNP) particle, which is part of the major spliceosome complex. SNRNP200 encodes an ATP-dependent RNA helicase that is essential for pre-mRNA splicing. It facilitates the unwinding and remodeling of RNA-RNA and RNA-protein interactions during spliceosome assembly and activation, particularly in the catalytic activation stage of splicing. Proper function of SNRNP200 is critical for the accurate removal of introns from pre-mRNA transcripts, thereby ensuring correct gene expression. | Alterations in SNRNP200, including mutations and changes in expression levels, have been associated with certain diseases. Notably, pathogenic variants in SNRNP200 have been linked to autosomal dominant retinitis pigmentosa (RP), a degenerative retinal disease. In this context, SNRNP200 may serve as a molecular marker for genetic diagnosis of RP in affected individuals or families. Additionally, changes in SNRNP200 expression have been observed in transcriptomic studies of various cancers, where it may be evaluated as a candidate biomarker for disease characterization or prognosis. However, its use as a biomarker is primarily based on its association with specific genetic disorders and disease states. |
| usherin (USH2A) | Usherin, encoded by the USH2A gene, is a large transmembrane protein that is expressed predominantly in the retina and inner ear. It is a component of the extracellular matrix and is involved in the development and maintenance of photoreceptor cells in the retina and hair cells in the cochlea. Usherin plays a role in cell adhesion, structural organization, and synaptic function within these sensory tissues. Mutations in USH2A are associated with Usher syndrome type II, which is characterized by retinitis pigmentosa and sensorineural hearing loss. | USH2A is utilized as a genetic biomarker in the context of inherited retinal diseases and syndromic forms of hearing loss, particularly Usher syndrome type II. Genetic testing for pathogenic variants in USH2A assists in the molecular diagnosis of these conditions and in distinguishing Usher syndrome type II from other forms of retinitis pigmentosa or non-syndromic hearing loss. Identification of USH2A mutations can inform prognosis, guide genetic counseling, and support patient stratification in research studies and clinical trials. |
Explore Research Opportunities with Protheragen. Our biomarker research services for retinitis pigmentosa offer comprehensive analytical and discovery capabilities, tailored for exploratory and preclinical research. Please note: all biomarkers discussed are research targets only and are not claimed as validated or mandatory for any application. Our work is focused exclusively on preclinical research stages, and we maintain strict scientific objectivity in all collaborations.
We invite you to engage with Protheragen for discussions on exploratory biomarker research in retinitis pigmentosa. Our focus is on scientific collaboration and knowledge exchange in the preclinical research space, without any claims regarding biomarker validation or necessity. Connect with us to advance understanding and innovation in retinal disease research.
Make Order
Experimental Scheme
Implementation
Conclusion
