CHRNE : cholinergic receptor nicotinic epsilon subunit
Description
The CHRNE gene encodes the epsilon subunit of the nicotinic acetylcholine receptor (nAChR), a crucial protein involved in neurotransmission at neuromuscular junctions and within the central nervous system. This receptor plays a vital role in muscle contraction, memory, and cognitive function. Mutations in the CHRNE gene can lead to a spectrum of disorders affecting muscle activity and neurological development. This article delves into the structure, function, and associated diseases related to the CHRNE gene.
Associated Diseases
- Congenital myasthenic syndrome (CMS): A group of neuromuscular disorders characterized by muscle weakness and fatigue.
- Epilepsy: Seizures and neurological dysfunction can occur due to altered neuronal activity.
- Cognitive impairment: Impaired memory, attention, and learning abilities have been linked to CHRNE gene variations.
- Autism spectrum disorder (ASD): Some studies suggest a potential association between CHRNE gene variations and ASD.
Did you know?
The CHRNE gene is also involved in the development of nicotine addiction, highlighting its role in the regulation of reward pathways.
