ADAR : adenosine deaminase RNA specific

ADAR1: Unlocking the Mysteries of RNA Editing

Description

The ADAR gene holds the blueprint for a crucial protein called RNA-specific adenosine deaminase 1 (ADAR1). This molecular maestro plays a pivotal role in RNA editing, a process that alters the genetic information encoded in RNA. RNA, a close cousin to DNA, carries out essential functions in cells. ADAR1‘s deft touch transforms a specific RNA nucleotide, adenosine, into its counterpart, inosine.

Associated Diseases

Genetic variations in the ADAR gene have been implicated in a myriad of diseases, including:

• Double-stranded RNA-mediated Periodic Fever Syndrome (DRIFTS): A rare autoinflammatory disorder characterized by recurrent fevers, skin rashes, and joint pain.
• Aicardi-Goutières Syndrome (AGS): A neuroinflammatory disease in children that leads to severe neurological impairment and developmental delays.
• Autism Spectrum Disorder (ASD): A group of neurodevelopmental disorders with difficulties in social communication and interaction.

Did you Know ?

In an intriguing study, researchers analyzed RNA editing patterns in the brains of individuals with ASD. They discovered that ADAR1-mediated RNA editing was significantly impaired in those with the disorder. This finding suggests that altered RNA editing may contribute to the development of ASD.