LGI1 & ADAM22 の変異はてんかんの発作の原因となる

Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission.

Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M.

Science. 2006 Sep 22;313(5794):1792-5.

Abnormally synchronized synaptic transmission in the brain causes epilepsy. Most inherited forms of epilepsy result from mutations in ion channels. However, one form of epilepsy, autosomal dominant partial epilepsy with auditory features (ADPEAF), is characterized by mutations in a secreted neuronal protein, LGI1. We show that ADAM22, a transmembrane protein that when mutated itself causes seizure, serves as a receptor for LGI1. LGI1 enhances AMPA receptor-mediated synaptic transmission in hippocampal slices. The mutated form of LGI1 fails to bind to ADAM22. ADAM22 is anchored to the postsynaptic density by cytoskeletal scaffolds containing stargazin. These studies in rat brain indicate possible avenues for understanding human epilepsy.



ADPEAF においては LGI1 の変異同様、膜貫通タンパク ADAM22 の変異がシナプス伝達を疎外し発作の原因となる。

Adam finds an exciting mate.

Snyder SH.

Science. 2006 Sep 22;313(5794):1744-5.