Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of <scp><i>SLC31A1</i></scp>

Dame, Christof; Horn, Denise; Schomburg, Lutz; Grünhagen, Johannes; Chillon, Thilo Samson; Tietze, Anna; Vogt, Annika; Bührer, Christoph

doi:10.1111/cge.14289

Cited by 8 publications

(3 citation statements)

References 20 publications

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“…Eventually copper replacement was stopped at the request of the parents. A second study reported a missense CTR1 variant (~236 T > C ) in a newborn infant presenting with severe low serum copper, respiratory distress, multifocal brain hemorrhages and seizures (Dame et al, 2023). The infant died at 1 month of age after cessation of ventilation intervention.…”

Section: Slc31a1 Mutationsmentioning

confidence: 99%

The physiological and pathophysiological roles of copper in the nervous system

Gale,

Aizenman

2024

Eur J of Neuroscience

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Copper is a critical trace element in biological systems due the vast number of essential enzymes that require the metal as a cofactor, including cytochrome c oxidase, superoxide dismutase and dopamine‐β‐hydroxylase. Due its key role in oxidative metabolism, antioxidant defence and neurotransmitter synthesis, copper is particularly important for neuronal development and proper neuronal function. Moreover, increasing evidence suggests that copper also serves important functions in synaptic and network activity, the regulation of circadian rhythms, and arousal. However, it is important to note that because of copper's ability to redox cycle and generate reactive species, cellular levels of the metal must be tightly regulated to meet cellular needs while avoiding copper‐induced oxidative stress. Therefore, it is essential that the intricate system of copper transporters, exporters, copper chaperones and copper trafficking proteins function properly and in coordinate fashion. Indeed, disorders of copper metabolism such as Menkes disease and Wilson disease, as well as diseases linked to dysfunction of copper‐requiring enzymes, such as SOD1‐linked amyotrophic lateral sclerosis, demonstrate the dramatic neurological consequences of altered copper homeostasis. In this review, we explore the physiological importance of copper in the nervous system as well as pathologies related to improper copper handling.

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Section: Slc31a1 Mutationsmentioning

confidence: 99%

The physiological and pathophysiological roles of copper in the nervous system

Gale,

Aizenman

2024

Eur J of Neuroscience

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“…This can disturb the transfer of copper to the Golgi lumen and may be responsible for the phenotypic variations seen in WD [ 156 ]. Recently, it has been shown that two mutations in the CTR1 gene in a homozygous state cause fatal copper deficiency, which also manifests as a low concentration of holo-Cp [ 157 , 158 ]. Hypothetically, the heterozygous state of these mutations can result in altered copper metabolism and may present a risk for PD development.…”

Section: Proofs For the Existence Of The Link Between Copper Dyshomeo...mentioning

confidence: 99%

Abnormalities in Copper Status Associated with an Elevated Risk of Parkinson’s Phenotype Development

Karpenko,

Muruzheva,

Ilyechova

et al. 2023

Antioxidants

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In the last 15 years, among the many reasons given for the development of idiopathic forms of Parkinson’s disease (PD), copper imbalance has been identified as a factor, and PD is often referred to as a copper-mediated disorder. More than 640 papers have been devoted to the relationship between PD and copper status in the blood, which include the following markers: total copper concentration, enzymatic ceruloplasmin (Cp) concentration, Cp protein level, and non-ceruloplasmin copper level. Most studies measure only one of these markers. Therefore, the existence of a correlation between copper status and the development of PD is still debated. Based on data from the published literature, meta-analysis, and our own research, it is clear that there is a connection between the development of PD symptoms and the number of copper atoms, which are weakly associated with the ceruloplasmin molecule. In this work, the link between the risk of developing PD and various inborn errors related to copper metabolism, leading to decreased levels of oxidase ceruloplasmin in the circulation and cerebrospinal fluid, is discussed.

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“…[ 4 ] First, copper was oxidized to form toxic monovalent copper by FDX1 after transporting it into cells with recombinant human high affinity copper uptake protein (SLC31A1). [ 5 ] Furthermore, the inactivation of DLAT was directly bonded with monovalent copper and formed inactive oligomers. [ 6 ] As a result, the inactivation of DLAT down‐regulated FDX1 expression to inhibit the TCA cycle leading to the cessation of aerobic respiration.…”

Section: Introductionmentioning

confidence: 99%

Cuproptosis‐Driven Enhancement of Thermotherapy by Sequentially Response Cu_2‐_xSe via Copper Chemical Transition

Chan

Liu

Chen

et al. 2023

Adv Funct Materials

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Activation of cuproptosis pathway has been reported to hold great potential in the application of tumor treatment. But the efficacy of cuproptosis seriously limited by the insufficient accumulation in the tumor sites. Therefore, herein based on the strong stabilization effects of the metalloid element selenium (Se) on copper (Cu), a photothermic Cu2‐xSe nanoparticle encapsulated with bioresponsive dimethyl maleic anhydride (DMMA@Cu2‐xSe) as a copper‐carrier to improve the copper accumulation in tumor is constructed, thus achieving cuproptosis‐driven enhancement of thermotherapy. This nanosystem exhibits the enhancement of tumor cellular uptake by a weak acid‐triggered charge‐switching ability. Next step, the exposed Cu2‐xSe is oxidized and releases divalent copper by high‐level oxide. Then, the abundant copper induces more dihydrolipoamide S‐acetyltransferase oligomerization to down‐regulate FDX1 and tricarboxylic acid cycle‐related proteins, which leads to inhibiting aerobic respiration. Cuproptosis‐induced mitochondrial damage further improves thermotherapy by up‐regulating reactive oxygen species (ROS). In addition, the generated ROS also promotes copper release to strengthen cuproptosis, and eventually improves tumor thermotherapy in turn. In general, DMMA@Cu2‐xSe with sequentially triggered copper‐release, efficient cuproptosis, and appropriate photothermal is a self‐enhanced nanoplatform for cuproptosis‐driven enhancement of thermotherapy.

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Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1

Cited by 8 publications

References 20 publications

The physiological and pathophysiological roles of copper in the nervous system

The physiological and pathophysiological roles of copper in the nervous system

Abnormalities in Copper Status Associated with an Elevated Risk of Parkinson’s Phenotype Development

Cuproptosis‐Driven Enhancement of Thermotherapy by Sequentially Response Cu_2‐_xSe via Copper Chemical Transition

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Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1

Cited by 8 publications

References 20 publications

The physiological and pathophysiological roles of copper in the nervous system

The physiological and pathophysiological roles of copper in the nervous system

Abnormalities in Copper Status Associated with an Elevated Risk of Parkinson’s Phenotype Development

Cuproptosis‐Driven Enhancement of Thermotherapy by Sequentially Response Cu2‐xSe via Copper Chemical Transition

Contact Info

Product

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Cuproptosis‐Driven Enhancement of Thermotherapy by Sequentially Response Cu_2‐_xSe via Copper Chemical Transition