Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar S, Pitt M, Bello O, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S1, Manzur AY, Wirth B, Houlden H.
Annals of Neurology,
The group of Prof. Henry Houlden from London together with the group of Prof. Brunhilde Wirth from Cologne, both PIs in the NEUROMICS project, identified mutations in the VAMP1 gene in people with a new type of a chronic myasthenic syndrome. VAMP1 plays an important role in the docking of synaptic vesicles to the presynaptic plasma membrane. In normal condition, this triggers exocytosis and release of the neurotransmitter acetylcholine, which initiates muscle contraction. This mechanism is impaired in people with VAMP1 mutations. Importantly the genetic discovery allowed a specific therapy with pyridostigmine.