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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man
Open accessAbstract
Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. We have recently reported a suspected autosomal recessively inherited syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia in cases without environmental Mn exposure. Whole-genome mapping of two consanguineous families identified SLC30A10 as the affected gene in this inherited type of hypermanganesemia. This gene was subsequently sequenced in eight families, and homozygous sequence changes were identified in all affected individuals. The function of the wild-type protein and the effect of sequence changes were studied in the manganese-sensitive yeast strain Δpmr1. Expressing human wild-type SLC30A10 in the Δpmr1 yeast strain rescued growth in high Mn conditions, confirming its role in Mn transport. The presence of missense (c.266T>C [p.Leu89Pro]) and nonsense (c.585del [p.Thr196Profs(∗)17]) mutations in SLC30A10 failed to restore Mn resistance. Previously, SLC30A10 had been presumed to be a zinc transporter. However, this work has confirmed that SLC30A10 functions as a Mn transporter in humans that, when defective, causes Mn accumulation in liver and brain. This is an important step toward understanding Mn transport and its role in neurodegenerative processes.
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Cited by
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Wessling-Resnick, M. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.r115.643973 · Cited by 136
Epigenetic influence of environmentally neurotoxic metals
Ijomone, O. M., Ijomone, O. K., Iroegbu, J. D., Ifenatuoha, C. W., Olung, N. F., & Aschner, M. (2020) · NeuroToxicology · doi:10.1016/j.neuro.2020.08.005 · Cited by 99
Vitamin D3 transactivates the zinc and manganese transporter SLC30A10 via the vitamin D receptor
Claro da Silva, T., Hiller, C., Gai, Z., & Kullak-Ublick, G. A. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.04.006 · Cited by 89
Exposure of metal toxicity in Alzheimer’s disease: An extensive review
Islam, F., Shohag, S., Akhter, S., Islam, M. R., Sultana, S., Mitra, S., Chandran, D., Khandaker, M. U., Ashraf, G. M., Idris, A. M., et al. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.903099 · Cited by 83
Metadata
- Authors
- Tuschl, K., Clayton, P. T., Gospe, S. M., Gulab, S., Ibrahim, S., Singhi, P., Aulakh, R., Ribeiro, R. T., Barsottini, O. G., Zaki, M. S., Del Rosario, M. L., Dyack, S., Price, V., Rideout, A., Gordon, K., Wevers, R. A., “Kling” Chong, W. K., & Mills, P. B.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-03
- Volume
- 90
- Issue
- 3
- Pages
- 457-466
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2108886647
- Cited by
- 375
- References
- 0
- FWCI
- 16.77
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Tuschl, K., Clayton, P. T., Gospe, S. M., Gulab, S., Ibrahim, S., Singhi, P., Aulakh, R., Ribeiro, R. T., Barsottini, O. G., Zaki, M. S., Del Rosario, M. L., Dyack, S., Price, V., Rideout, A., Gordon, K., Wevers, R. A., “Kling” Chong, W. K., & Mills, P. B. (2012). Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2012.01.018
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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