Manganez Metabolizminin Kalıtsal Bozuklukları: Çocukluk Döneminde Dystonia-Parkinsonizmin Patofizyolojisi; <i>SLC39A14</i> Mutasyon Taşıyıcıları ve Genetik Hayvan Modelleri.

Araştırma özeti

Aşağıdaki metin kaynak makalenin lisansı doğrulanmış orijinal özetidir. cc by

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.

İlgili konular