DDX58
Title: Unraveling the Enigma of DDX58: A Molecular Gateway to Understanding Neurological Disorders
Introduction:
DDX58, a vital RNA helicase, plays a pivotal role in cellular processes, including transcription, translation, and genome stability. Recent research has shed light on its profound impact on neurological health, opening up exciting avenues for understanding and treating a range of neurodegenerative disorders.
Description:
DDX58 is a DEAD-box RNA helicase, an enzyme responsible for unwinding the double-stranded structure of RNA molecules. It is mainly found in the nucleus and is involved in various cellular processes, including transcription, translation, splicing, and DNA repair.
Associated Diseases:
Mutations in the DDX58 gene have been linked to several neurological disorders, including:
- Spinocerebellar Ataxia 36 (SCA36): A rare neurodegenerative disorder characterized by progressive ataxia, difficulties in speech and swallowing, and eye movement abnormalities.
- Autism Spectrum Disorder (ASD): A complex neurodevelopmental disorder characterized by social and communicative deficits and repetitive behaviors.
- Rett Syndrome: A genetic disorder that primarily affects girls and causes intellectual disability, impaired speech, and repetitive hand movements.
- Amyotrophic Lateral Sclerosis (ALS): A fatal neurodegenerative disorder characterized by progressive muscle weakness and loss of motor function.
Did you Know ?
Approximately 1 in 100,000 people worldwide is affected by SCA36, a rare neurological disorder caused by mutations in the DDX58 gene.
