Structure and function of the neuromuscular junction in health and myasthenia gravis

Abstract

The neuromuscular junction (NMJ) connects a motor neuron to a skeletal muscle cell. Cholinergic synaptic transmission enables muscle contraction, which is crucial for survival. Although synaptic communication at the NMJ is robust, with an inherent safety margin, it becomes hampered in the neuro-immunological disorder myasthenia gravis (MG). The synaptic dysfunction underlies the (fatigable) muscle weakness, which hallmarks this disease. In this chapter, we will review normal NMJ physiology and the pathophysiological consequences of autoimmune attacks in MG, focusing on recent insights and developments.

Keywords: Acetylcholine receptor; Electrophysiology; Motor nerve terminal; Myasthenia gravis; Neuromuscular junction; Neurotransmitter release; Synaptic homeostasis.