Rare ceruloplasmin variants are associated with hyperferritinemia and increased hepatic iron in NAFLD patients: results from a NGS study

Corradini, Elena; Bernardis, Isabella; Dongiovanni, Paola; Buzzetti, Elena; Caleffi, Angela; Artuso, Lucia; Pelusi, S.; Tenedini, Elena; Tagliafico, Enrico; Rametta, Raffaela; Pietrangelo, Antonello; Valenti, L.

doi:10.1016/s0168-8278(18)30337-4

Cited by 3 publications

(6 citation statements)

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“…Our findings are in line with another study reporting a high prevalence of CP variants in patients with hepatic iron overload. (46) In contrast to previous studies reporting a prevalence of 80%-90% homozygosity for the p.Cys282Tyr variant in HFE in Whites with phenotypic hemochromatosis, (8)(9)(10) the present study shows that only 10% of patients referred for the evaluation of high serum ferritin were homozygous for this variant. This difference could be attributed to the fact that firstlevel HFE genotyping was performed regardless of increased TSAT and to the distinct phenotype of patients with BMP6 and SLC40A1 variants.…”

Section: Discussioncontrasting

confidence: 99%

“…Further in vitro studies are needed to determine the functional consequence of these rare variants. Our findings are in line with another study reporting a high prevalence of CP variants in patients with hepatic iron overload (46).…”

Section: Accepted Articlesupporting

confidence: 93%

“…Our findings are in line with another study reporting a high prevalence of CP variants in patients with hepatic iron overload. ( 46 )…”

Section: Discussionmentioning

confidence: 99%

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MRI‐Based Iron Phenotyping and Patient Selection for Next‐Generation Sequencing of Non–Homeostatic Iron Regulator Hemochromatosis Genes

et al. 2021

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Section: Discussioncontrasting

confidence: 99%

Section: Accepted Articlesupporting

confidence: 93%

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MRI‐Based Iron Phenotyping and Patient Selection for Next‐Generation Sequencing of Non–Homeostatic Iron Regulator Hemochromatosis Genes

et al. 2021

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“…The upregulation of CP for both CuS and IONF@CuS is consistent with its role not only as Cu transporter but also for Fe. 42 The particular case of ATP7A is also relevant, with an upregulation only for IONF@CuS. ATP7A encodes for the copper-transporting ATPase 1 that has for a main function the transport of Cu, and potentially Fe, across the cell membrane, and is thus related to cellular ion levels.…”

Section: Resultsmentioning

confidence: 99%

Massive Intracellular Remodeling of CuS Nanomaterials Produces Nontoxic Bioengineered Structures with Preserved Photothermal Potential

et al. 2021

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Despite efforts in producing nanoparticles with tightly controlled designs and specific physicochemical properties, these can undergo massive nano−bio interactions and bioprocessing upon internalization into cells. These transformations can generate adverse biological outcomes and premature loss of functional efficacy. Hence, understanding the intracellular fate of nanoparticles is a necessary prerequisite for their introduction in medicine. Among nanomaterials devoted to theranostics is copper sulfide (CuS), which provides outstanding optical properties along with easy synthesis and low cost. Herein, we performed a long-term multiscale study on the bioprocessing of hollow CuS nanoparticles (CuS NPs) and rattle-like iron oxide nanoflowers@CuS core−shell hybrids (IONF@CuS NPs) when inside stem cells and cancer cells, cultured as spheroids. In the spheroids, both CuS NPs and IONF@ CuS NPs are rapidly dismantled into smaller units (day 0 to 3), and hair-like nanostructures are generated (day 9 to 21). This bioprocessing triggers an adaptation of the cellular metabolism to the internalized metals without impacting cell viability, differentiation, or oxidative stress response. Throughout the remodeling, a loss of IONF-derived magnetism is observed, but, surprisingly, the CuS photothermal potential is preserved, as demonstrated by a full characterization of the photothermal conversion across the bioprocessing process. The maintained photothermal efficiency correlated well with synchrotron X-ray absorption spectroscopy measurements, evidencing a similar chemical phase for Cu but not for Fe over time. These findings evidence that the intracellular bioprocessing of CuS nanoparticles can reshape them into bioengineered nanostructures without reducing the photothermal function and therapeutic potential.

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“…These discrepancies are difficult to explain. Preliminary data from next generation sequencing studies have shown how variants/polymorphisms of genes involved in iron metabolism, other than HFE , could have an impact on SF levels and hepatic iron in NAFLD patients, therefore differences linked to ethnicity and geographical provenience are to be expected.…”

Section: Discussionmentioning

confidence: 99%

Evaluating the association of serum ferritin and hepatic iron with disease severity in non‐alcoholic fatty liver disease

Buzzetti

Petta

Manuguerra

et al. 2019

Liver International

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Background & Aims: Hyperferritinemia, with or without increased hepatic iron, represents a common finding in non-alcoholic fatty liver disease (NAFLD). However, it is unclear whether it reflects hepatic inflammation or true iron-overload and, in case the latter is confirmed, whether this influences disease progression. We therefore explored the association between serum ferritin, degree and pattern of hepatic iron deposition and liver disease severity in patients with NAFLD. Methods:We selected 468 patients with biopsy-proven NAFLD from 2 European centres. Iron, hepatic and metabolic parameters were collected at the time of liver biopsy. Iron deposits in hepatocytes and reticuloendothelial cells were assessed and graded. Diagnosis of non-alcoholic steatohepatitis (NASH) and fibrosis staging were performed.Results: A total of 122 (26%) patients had hyperferritinemia, whereas stainable hepatic iron was found in 116 (25%) patients (38% predominantly in hepatocytes, 20% in reticuloendothelial cells and 42% in both). Subjects with stainable hepatic iron, particularly those with a mixed pattern, had higher serum ferritin and transaminases but only a mixed pattern of iron deposition was among the variables significantly associated with presence of NASH. Serum ferritin was not associated with presence of NASH, however it increased with worsening fibrosis stage (F3 compared to F0-F1), and significantly decreased in stage F4. Conclusions:A mixed pattern of hepatic iron deposition is associated with the presence of steatohepatitis, while serum ferritin increases with worsening fibrosis up to pre-cirrhotic stage. In individual NAFLD patients, serum ferritin could be evaluated as part of non-invasive diagnostic panels but not on its own.

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Rare ceruloplasmin variants are associated with hyperferritinemia and increased hepatic iron in NAFLD patients: results from a NGS study

Cited by 3 publications

References 0 publications

MRI‐Based Iron Phenotyping and Patient Selection for Next‐Generation Sequencing of Non–Homeostatic Iron Regulator Hemochromatosis Genes

MRI‐Based Iron Phenotyping and Patient Selection for Next‐Generation Sequencing of Non–Homeostatic Iron Regulator Hemochromatosis Genes

Massive Intracellular Remodeling of CuS Nanomaterials Produces Nontoxic Bioengineered Structures with Preserved Photothermal Potential

Evaluating the association of serum ferritin and hepatic iron with disease severity in non‐alcoholic fatty liver disease

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