RNA Markers – The Next Generation of Disease Diagnostics
Ribonucleic acid or RNA has emerged as an important molecular marker for detecting various diseases. RNA biomarkers are gaining prominence due to their ability to provide more accurate and detailed information about disease conditions compared to other traditional markers. In this article, we will discuss the importance of RNA markers and some of the key RNA markers that are revolutionizing disease diagnosis and prognosis.
Introduction to RNA Markers
Ribonucleic acid or RNA is a biomolecule that is present in all living cells. It plays an important role in coding, decoding, regulation and expression of genes. RNA is highly specific to cell and tissue types. Any changes at the molecular level in cells and tissues are reflected in the RNA profiles. Therefore, RNA has immense potential to serve as sensitive biomarkers for various diseases. Compared to DNA, RNA levels change more dynamically based on cell state, environment and disease conditions making it an attractive target for disease biomarkers.
RNA markers can provide insights into disease pathways, progression, subtypes as well as help predict response to therapies. They can detect disease at an early stage, predict risk of disease, detect disease recurrence and monitor treatment response. RNA markers are also useful for developing disease classification systems and developing personalized treatment plans. With advancements in high-throughput sequencing and bioinformatics, it is now possible to profile the entire transcriptome and identify novel RNA markers with high accuracy.
Key RNA Markers
Some of the important RNA markers that are being used for clinical diagnosis include:
microRNAs (miRNAs) – miRNAs are short non-coding RNA molecules that regulate gene expression at the post-transcriptional level. Unique miRNA signatures have been found for many cancer types and other diseases. miR-21, miR-122, let-7 family are some important miRNA markers.
Messenger RNAs (mRNA) – Abnormal levels of mRNAs of oncogenes and tumor suppressor genes can serve as markers for cancers. For example, overexpression of c-myc mRNA indicates aggressive breast cancer.
Long non-coding RNAs (lncRNAs) – lncRNAs are transcripts longer than 200 nucleotides that regulate gene expression. HOTAIR is associated with breast cancer metastasis. MALAT1 is elevated in lung cancers.
Transcriptomic/gene expression profiles – Next generation sequencing allows analyzing whole transcriptome profiles which can classify disease subtypes and predict survival more accurately.
circulating cell-free RNAs – Tumor derived RNA fragments found in blood can non-invasively detect and monitor cancers. Example: PROX1 mRNA for pancreatic cancer.
spliced mRNA variants – Aberrant splicing is a hallmark of cancer. Specific splice variants are markers for leukemia, breast cancer.
RNA Sequencing in Disease Diagnosis
RNA sequencing has revolutionized clinical diagnosis by enabling comprehensive interrogation of transcriptomes. It offers several advantages over microarrays. It has higher sensitivity to detect low abundance transcripts, ability to detect novel transcripts and splice variants, performs both discovery and quantification and does not require prior sequence information.
RNA sequencing has been successfully applied for:
Cancer subtyping and prognosis prediction – Refines cancer classification and aids personalized therapies. Glioblastoma subtyping study established IDH1 mutation as a strong prognostic marker.
Infectious disease diagnosis – Rapidly identifies pathogens even in complex clinical samples. Enables early detection of viral load changes in HIV, understanding Zika pathogenesis.
Neurological disorders – Molecular classification of autism, depression, schizophrenia aided by transcriptomic profiling of brain tissue or peripheral cells.
Metabolic diseases – RNA signatures link inborn errors of metabolism to specific genes and pathways enhancing newborn screening programs.
Transplant rejections – Non-invasive monitoring of organ transplant status through urine/blood derived RNA biomarkers helps optimize immunosuppression.
Pharmacogenomics – Insights into drug response variability between individuals to select effective and safe therapies guided by RNA profiles. Hepatitis C virus RNA decline measures efficacy of antiviral regimens.
Clinical Potential and Challenges
With continuous scientific innovations, RNA markers hold tremendous potential to transform disease management in the coming years. They enhance early detection, aid precision diagnosis and enable effective monitoring of treatment response. However, widespread clinical use of RNA markers poses some challenges – need for standardized protocols for sample collection, processing and data analysis; establishing large reference databases; multidisciplinary expertise; regulatory approvals and cost effectiveness. Integration of multi-omics approaches and artificial intelligence will help address these challenges to fully realize the potential of RNA markers.
In summary, RNA markers due to their dynamic nature offer an unparalleled opportunity to gain deep molecular insights into disease pathogenesis and progression. Advancements in sequencing technologies are rapidly increasing the discovery of novel RNA biomarkers with high sensitivity and specificity. Standardization efforts and large collaborative studies will accelerate the translational of these markers into clinical practice for improving patient care. RNA-based liquid biopsies also hold promise for non-invasive, real-time and economical disease monitoring. Overall, RNA markers are poised to transform disease diagnostics in the coming years.
- Source: Coherent Market Insights, Public sources, Desk research
- We have leveraged AI tools to mine information and compile it