SNORA34
The snora34 Gene: An Intriguing Tale of RNA Modification and Disease
Description
The snora34 gene, located on chromosome 16q22.1, plays a crucial role in the intricate world of RNA modification. It encodes a small nucleolar RNA (snoRNA) molecule known as SNORA34. This tiny molecule acts as a guide, directing the modification of specific nucleotides in other RNA molecules, a process called pseudouridylation.
Pseudouridylation, a type of RNA editing, involves converting uridine (U) nucleotides into pseudouridine (Ψ). This seemingly minor change has a profound impact on RNA structure and function. Pseudouridylated RNAs are more stable and resistant to degradation, enhancing their ability to regulate gene expression and protein synthesis.
Associated Diseases
Mutations in the snora34 gene have been linked to several rare diseases:
- Pontocerebellar Hypoplasia Type 15 (PCH15): This neurological disorder affects the development of the cerebellum and brainstem, leading to motor and cognitive impairments.
- Microcephalic Primordial Dwarfism with Dandy-Walker Malformation (MPDDW): This condition is characterized by severe microcephaly (small head size), dwarfism, and brain malformations.
- Congenital Myasthenic Syndrome (CMS): This neuromuscular disorder causes muscle weakness and fatigue from birth.
Did you Know ?
Approximately 1 in every 100,000 individuals is affected by PCH15, highlighting the rarity of these snora34-related diseases.
