Al-Wesabi SN (2024) RNA Diseases Refers to a Wide Range of Illnesses. JSM Biol 6(1): 1021.

RNA diseases encompass various disorders that arise due to anomalies in RNA molecules or their associated processes. These diseases can affect the RNA or proteins involved in RNA synthesis, modification, and degradation. Understanding RNA diseases is crucial as RNA plays a fundamental role in gene expression and regulation. This review will cover the major categories of RNA diseases, their molecular mechanisms, and the current advancements in diagnosis and treatment.

RNA diseases can be broadly categorized into the following types:

• Genetic Disorders: These include diseases caused by mutations in RNA-coding genes or regulatory sequences.

• Splicing Disorders: These involve errors in the splicing of pre-mRNA, leading to abnormal mRNA and dysfunctional proteins.

• RNA Processing Disorders: These affect the maturation of RNA molecules, including modifications like methylation and editing.

• RNA Stability and Degradation Disorders: These involve defects in the pathways that control RNA stability and degradation.

• Non-coding RNA Disorders: These include diseases associated with small RNAs (like miRNAs) and long non coding RNAs (lncRNAs).

• Infectious RNA Diseases: Caused by RNA viruses, such as influenza and SARS-CoV-2.

Genetic Disorders:

• Mutations: Point mutations, insertions, deletions, and trinucleotide repeat expansions in RNA-coding genes can lead to diseases such as Fragile X syndrome (FMR1 gene), myotonic dystrophy (DMPK gene), and Huntington’s disease (HTT gene).

• Transcriptional Dysregulation: Mutations in promoter regions or transcription factor binding sites can alter RNA synthesis.

Splicing Disorders:

• Splice Site Mutations: Mutations at splice sites can cause exon skipping, intron retention, or the use of cryptic splice sites, as seen in spinal muscular atrophy (SMN1 gene) and cystic fibrosis (CFTR gene).

• Splicing Factor Mutations: Mutations in splicing factors (e.g., SF3B1, U2AF1) can lead to global splicing defects and diseases like myelodysplastic syndromes.

RNA Processing Disorders:

• Modification Defects: Mutations affecting RNA modifications (e.g., m6A methylation) can disrupt RNA stability and function, contributing to cancer and neurological diseases.

• Editing Defects: Defective RNA editing enzymes (e.g., ADAR) can lead to diseases like Aicardi-Goutières syndrome.

RNA Stability and Degradation Disorders:

• Nonsense-mediated Decay (NMD) Defects: Impairments in NMD pathways can result in the accumulation of faulty mRNAs, contributing to diseases such as β-thalassemia.

• AU-rich Element (ARE) Disorders: Dysregulation of ARE-binding proteins can lead to aberrant mRNA decay, affecting inflammation and cancer.

Non-coding RNA Disorders:

• miRNA Dysregulation: Altered miRNA expression can contribute to cancer, cardiovascular diseases, and neurodegenerative disorders.

• lncRNA Dysregulation: Abnormal lncRNA expression is associated with various cancers and developmental disorders.

Infectious RNA Diseases:

• RNA Virus Pathogenesis: RNA viruses can hijack host RNA machinery, leading to diseases such as HIV/AIDS, hepatitis C, and COVID-19.

Diagnosis:

• Next-Generation Sequencing (NGS): High-throughput sequencing technologies allow for the comprehensive analysis of RNA transcripts and identification of mutations.

• RNA-seq: This technique provides insights into transcriptome-wide changes in gene expression and splicing.

Treatment:

• Antisense Oligonucleotides (ASOs): These synthetic nucleic acids can modulate splicing or degrade target RNAs, showing promise in treating diseases like spinal muscular atrophy and Duchenne muscular dystrophy.

• RNA Interference (RNAi): RNAi therapies, such as small interfering RNAs (siRNAs) and microRNAs (miRNAs), can specifically target and degrade pathogenic RNAs.

• CRISPR-Cas Systems: CRISPR technology is being explored for RNA editing and gene therapy applications.

• Small Molecule Inhibitors: Drugs targeting RNA-binding proteins or splicing factors are in development for cancer and other diseases.

RNA diseases represent a diverse and complex group of disorders with significant implications for human health. Advances in molecular biology and genomics have enhanced our understanding of the underlying mechanisms and paved the way for innovative diagnostic and therapeutic strategies. Continued research is essential to unravel the complexities of RNA biology and develop effective treatments for RNA-related diseases.