No disease causes RNA; rather, RNA is a fundamental molecule involved in the function of all known life forms. However, aberrant RNA function, resulting from genetic mutations or other factors, can cause various diseases.
Several diseases are directly linked to problems with RNA's structure or function:
RNA-Related Diseases
- Myotonic Dystrophy types 1 (DM1) and 2 (DM2): These are examples where an RNA gain-of-function contributes directly to disease pathology. The expansion of unstable repeat sequences within the RNA leads to disease.
- Fragile X-associated tremor ataxia syndrome (FXTAS): Similar to DM1 and DM2, this involves RNA gain-of-function resulting in disease.
- Spinocerebellar ataxia 8 (SCA8): This is another disease stemming from RNA gain-of-function.
- Cartilage-hair hypoplasia (CHH): Mutations in the RNA component of RNase MRP cause this pleiotropic developmental disorder.
- Amyotrophic lateral sclerosis (ALS): Aberrant RNA processing contributes to the disease by causing absence of the glutamate transporter EAAT2.
Many other diseases involve disruptions in RNA processing, stability, or function, although the link might be indirect or less clearly defined. For instance, viral diseases like Chikungunya are caused by an RNA virus. However, the virus itself is not a disease; rather, it causes a disease through its effects on the host.
The references provided highlight a variety of ways RNA malfunctions lead to different diseases, demonstrating the central role RNA plays in cellular function and health. Further research continues to uncover the intricate involvement of RNA in disease mechanisms.
