期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 23, 期 21, 页码 -出版社
MDPI
DOI: 10.3390/ijms232112833
关键词
manganese; dystonia-parkinsonism; manganism; Slc39a14
资金
- Office of Research and Economic Development at Florida International University
- National Institute of Environmental Health Sciences (NIEHS) [R01-ES029344]
- National Institute of Health (NIH) at Florida International University [T32-GM13205401]
Clinical reports on childhood-onset manganese-induced dystonia-parkinsonism have provided valuable insights, but our understanding of the underlying neuropathophysiology remains limited. The availability of Slc39a14 knockout animal models offers a powerful platform for further research into the neurological effects of elevated manganese concentrations.
Over the last decade, several clinical reports have outlined cases of childhood-onset manganese (Mn)-induced dystonia-parkinsonism, resulting from loss-of-function mutations in the Mn influx transporter gene SLC39A14. These clinical cases have provided a wealth of knowledge on Mn toxicity and homeostasis. However, our current understanding of the underlying neuropathophysiology is severely lacking. The recent availability of Slc39a14 knockout (KO) murine and zebrafish animal models provide a powerful platform to investigate the neurological effects of elevated blood and brain Mn concentrations in vivo. As such, the objective of this review was to organize and summarize the current clinical literature and studies utilizing Slc39a14-KO animal models and assess the validity of the animal models based on the clinical presentation of the disease in human mutation carriers.
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