Pathology of inherited manganese transporter deficiency

Lechpammer, Mirna; Clegg, Michael S.; Muzar, Zukhrofi; Huebner, Philip A.; Jin, Lee Way; Gospe, Sídney M.

doi:10.1002/ana.24131

Cited by 63 publications

(61 citation statements)

References 17 publications

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“…These authors followed the patient described in their report from the age of 14 till death at age 38, and then described autopsy findings in a second manuscript (Lechpammer et al . ). The patient had homozygous mutations in SLC30A10 (Tuschl et al .…”

Section: Manganese Exportmentioning

confidence: 97%

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Manganese homeostasis in the nervous system

Chen

Chakraborty

Mukhopadhyay

et al. 2015

Journal of Neurochemistry

234

162

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Manganese (Mn) is an essential heavy metal that is naturally found in the environment. Daily intake through dietary sources provides the necessary amount required for several key physiological processes, including antioxidant defense, energy metabolism, immune function and others. However, overexposure from environmental sources can result in a condition known as manganism that features symptomatology similar to Parkinson's disease (PD). This disorder presents with debilitating motor and cognitive deficits that arise from a neurodegenerative process. In order to maintain a balance between its essentiality and neurotoxicity, several mechanisms exist to properly buffer cellular Mn levels. These include transporters involved in Mn uptake, and newly discovered Mn efflux mechanisms. This review will focus on current studies related to mechanisms underlying Mn import and export, primarily the Mn transporters, and their function and roles in Mn-induced neurotoxicity.

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Section: Manganese Exportmentioning

confidence: 97%

“…; Lechpammer et al . ). Important features observed during autopsy included severe neuronal loss in the basal ganglia, particularly in the globus pallidus, along with a 16‐fold increase in basal ganglia and a 9‐fold increase in liver Mn levels (Lechpammer et al .…”

Section: Manganese Exportmentioning

confidence: 97%

Manganese homeostasis in the nervous system

Chen

Chakraborty

Mukhopadhyay

et al. 2015

Journal of Neurochemistry

234

162

View full text Add to dashboard Cite

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“…A Tf-dependent mechanism for Mn transport in rat PC12 cells has been described before. 107 Recently, Gunter and colleagues have developed an approach to study the Tf-dependent Mn transport independently of other Mn transport mechanisms. Using mouse hippocampal (HT22) and striatal (STHdhQ7/Q7) neurons, they have demonstrated that Mn can be conjugated to Tf when in the Mn 3+ state and then be transported into neurons via the Tf receptor (TfR) analogously to Fe 3+ .…”

Section: Mn Transporters: Regulation Of Mn Levelsmentioning

confidence: 99%

Manganese-induced neurotoxicity: from C. elegans to humans

Chen

Chakraborty

Peres

et al. 2014

Toxicology Research

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Manganese (Mn) is one of the most abundant metals on the earth. It is required for normal cellular activities, but overexposure leads to toxicity. Neurons are more susceptible to Mn-induced toxicity than other cells, and accumulation of Mn in the brain results in Manganism that presents with Parkinson's disease (PD)-like symptoms. In the last decade, a number of Mn transporters have been identified, which improves our understanding of Mn transport in and out of cells. However, the mechanism of Mn-induced neurotoxicity is only partially uncovered, with further research needed to explore the whole picture of Mn-induced toxicity. In this review, we will address recent progress in Mn-induced neurotoxicity from C. elegans to humans, and explore future directions that will help understand the mechanisms of its neurotoxicity.

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“…Several recent clinical studies have reported that human subjects with Solute Carrier Family 30 Member 10 (SLC30A10; ZnT10) deficiency/mutation display higher Mn accumulation in the liver 67 and blood 103, 104 , as well as 10 times higher Mn in the basal ganglia, which is associated with dystonia, a typical phenotype of Mn neurotoxicity 105–107 . SLC30A10 was thought to be a zinc exporter, but its amino acid structure is different from other zinc transporters in this family 108 , and it was later suggested that SLC30A10 may not be involved in zinc transport 109 .…”

Section: Introductionmentioning

confidence: 99%

Influence of iron metabolism on manganese transport and toxicity

et al. 2017

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Although manganese (Mn) is critical for proper function of various metabolic enzymes and cofactors, excess Mn in the brain causes neurotoxicity. While the exact transport mechanism of Mn has not been fully understood, several importers and exporters for Mn have been identified over the past decade. In addition to Mn-specific transporters, it has been demonstrated that iron transporters can mediate Mn transport in the brain and peripheral tissues. However, while the expression of iron transporters is regulated by body iron stores, whether or not disorders of iron metabolism modify Mn homeostasis has not been systematically discussed. The present review will provide an update on the role of altered iron status in the transport and toxicity of Mn.

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Pathology of inherited manganese transporter deficiency

Cited by 63 publications

References 17 publications

Manganese homeostasis in the nervous system

Manganese homeostasis in the nervous system

Manganese-induced neurotoxicity: from C. elegans to humans

Influence of iron metabolism on manganese transport and toxicity

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