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Tuschl, K.* ; Meyer, E.* ; Valdivia, L.E.* ; Zhao, N.* ; Dadswell, C.* ; Abdul-Sada, A.* ; Hung, C.Y.* ; Simpson, M.A.* ; Chong, W.K.* ; Jacques, T.S.* ; Woltjer, R.L.* ; Eaton, S.* ; Gregory, A.* ; Sanford, L.* ; Kara, E.* ; Houlden, H.* ; Cuno, S.M. ; Prokisch, H. ; Valletta, L.* ; Tiranti, V.* ; Younis, R.* ; Maher, E.R.* ; Spencer, J.* ; Straatman-Iwanowska, A.* ; Gissen, P.* ; Selim, L.A.M.* ; Pintos-Morell, G.* ; Coroleu-Lletget, W.* ; Mohammad, S.S.* ; Yoganathan, S.* ; Dale, R.C.* ; Thomas, M.* ; Rihel, J.* ; Bodamer, O.A.* ; Enns, C.A.* ; Hayflick, S.J.* ; Clayton, P.T.* ; Mills, P.B.* ; Kurian, M.A.* ; Wilson, S.W.*

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Nat. Commun. 7:11601 (2016)

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Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates.

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