CHRNG

The CHRNG gene encodes the gamma subunit of the nicotinic acetylcholine receptor (nAChR), also referred to as AChR γ subunit. This subunit is essential for assembling functional nAChRs at the fetal neuromuscular junction, facilitating signal transmission between motor neurons and muscle fibers. When acetylcholine binds, the receptor’s ion channel opens, enabling cation influx to initiate muscle contraction. Postnatally, it is replaced by the epsilon subunit, but CHRNG mutations can disrupt receptor stability or function.
Mutations in CHRNG are a known cause of congenital myasthenic syndrome (CMS), marked by muscle weakness and fatigability. Current treatments include cholinesterase inhibitors like pyridostigmine to boost acetylcholine levels, improving neuromuscular signaling. Research is ongoing to develop targeted therapies, such as gene editing, to correct CHRNG defects and restore normal receptor activity in affected patients.