Metabolic crossroads of iron and copper

Collins, James F.; Prohaska, Joseph R.; Knutson, Mitchell D.

doi:10.1111/j.1753-4887.2010.00271.x

Cited by 274 publications

(210 citation statements)

References 140 publications

(178 reference statements)

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“…41 Copper is known to regulate iron utilization in the bone marrow and in hemoglobin synthesis. [42][43][44][45] Importantly, both ABCB7 and ATP7A genes are expressed in the bone marrow 26,46 and in various tissues (Illumina Human Body Map 2.0), 26,46,47 (Supplementary Figure 5). Given the mutual regulatory influence of the copper and iron uptake, the clinical phenotype described in the Buryat patients may depend on presumable interaction of genetic defects in two genes for the MBPs in some tissue cells, an interesting case of syndrome inherited as a X-linked monogenic trait.…”

Section: Discussionmentioning

confidence: 99%

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

et al. 2015

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X-linked congenital cerebellar ataxia is a heterogeneous nonprogressive neurodevelopmental disorder with onset in early childhood. We searched for a genetic cause of this condition, previously reported in a Buryat pedigree of Mongolian ancestry from southeastern Russia. Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transporter B7) gene, encoding a mitochondrial transporter, involved in heme synthesis and previously associated with sideroblastic anemia and ataxia. The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. Moreover, in these affected men we also found the genetic defects in two other genes closely linked to ABCB7 on chromosome X: a deletion of a genomic region harboring the second exon of copper-transporter gene (ATP7A) and a complete deletion of PGAM4 (phosphoglycerate mutase family member 4) retrogene located in the intronic region of the ATP7A gene. Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers. The role of the PGAM4 gene has been previously implicated in human reproduction, but our data indicate that its complete loss does not disrupt male fertility. Our finding links cerebellar pathology to the genetic defect in ABCB7 and ATP7A structural variant inherited as X-linked trait, and further reveals the genetic heterogeneity of X-linked cerebellar disorders.

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Section: Discussionmentioning

confidence: 99%

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

et al. 2015

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“…Various proteins bind and carry certain minerals including Fe, Cu and Ca and thus an inadequate protein intake may impair the function of these nutrients (Collins et al, 2010). The quality and quantity of dietary fiber can negatively influence the absorption of several minerals, including Ca and Fe.…”

Section: Mineral Nutrition In Livestockmentioning

confidence: 99%

Review: Nutritional ecology of heavy metals

Hejna

Gottardo

Baldi

et al. 2018

Animal

149

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The aim of this review is to focus the attention on the nutrition ecology of the heavy metals and on the major criticisms related to the heavy metals content in animal feeds, manure, soil and animal-origin products. Heavy metals are metallic elements that have a high density that have progressively accumulated in the food chain with negative effects for human health. Some metals are essential (Fe, I, Co, Zn, Cu, Mn, Mo, Se) to maintain various physiological functions and are usually added as nutritional additives in animal feed. Other metals (As, Cd, F, Pb, Hg) have no established biological functions and are considered as contaminants/ undesirable substances. The European Union adopted several measures in order to control their presence in the environment, as a result of human activities such as: farming, industry or food processing and storage contamination. The control of the animal input could be an effective strategy to reduce human health risks related to the consumption of animal-origin products and the environmental pollution by manure. Different management of raw materials and feed, animal species as well as different legal limits can influence the spread of heavy metals. To set up effective strategies against heavy metals the complex interrelationships in rural processes, the widely variability of farming practices, the soil and climatic conditions must be considered. Innovative and sustainable approaches have discussed for the heavy metal nutrition ecology to control the environmental pollution from livestockrelated activities.

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“…In some pathological conditions developing SS, macrophages may be loaded with excessive amounts of iron. Cp is required for the efficient release of iron from macrophages [16]. Thus, in case of Cp deficiency, iron cannot be released effectively by macrophages, and iron accumulation in macrophages at the subpial or subependymal regions may occur more easily.…”

Section: Discussionmentioning

confidence: 99%