Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models
oleh: Hsueh-Fu Wu, Wenxin Yu, Kenyi Saito-Diaz, Chia-Wei Huang, Joseph Carey, Frances Lefcort, Gerald W. Hart, Hong-Xiang Liu, Nadja Zeltner
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2022-11-01 |
Deskripsi
Sympathetic neurons are affected in familial dysautonomia, a rare disease associated with a mutation in ELP1, but the mechanisms are not fully understood. Here the authors show, using neurons derived from participants with familial dysauotnomia, that spontaneous sympathetic neuron hyperactivity is observed and is associated with norepinephrine transporter deficits.