Menkes Disease

Ashrafi, Mahmoud Reza; Ghasemi, Dorsa; Safavi, Mohammadreza

doi:10.34172/aim.2021.138

Cited by 5 publications

(2 citation statements)

References 4 publications

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“…Відкриття Д. Данкса ґрунтувалося на його визнанні того, що незвичайне волосся у немовлят із хворобою Менкеса за текстурою схоже на ламку вовну ягнят, вирощених на ґрунті з дефіцитом міді в Австралії. Таким чином, спостереження, проведені з інтервалом у 35 ро-ків щодо наслідків дефіциту міді в австралійських ягнят, стали надзвичайно актуальними для вивчення вродженої помилки метаболізму людини [5]. Вище наведене біохімічне відкриття викликало зацікавленість до фенотипу, який був ретельно описаний у 1962 році доктором Джоном Менкесом та його колегами з Колумбійського університету в Нью-Йорку.…”

Section: вступunclassified

Menkes Disease: A Literature Review and Clinical Case

Tokarchuk,

Chekotun,

Starynets

et al. 2024

Neonatol. hìr. perinat. med.

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Menkes Kinky Hair Disease (MKHD) is characterized by an abnormality in copper metabolism caused by a mutation in the ATP7A gene, which is located on Xq13.3 and has 23 exons. In addition, this gene encodes 1500 amino acids and is expressed in large quantities in various organs. It’s worth mentioning that about 357 diff erent mutations have been identifi ed in the ATP7A gene. It is a relatively rare disease with an incidence of 1 case per 100,000 to 250,000 live births. MKHD is an X-linked recessive trait that almost exclusively aff ects boys.The diagnosis of this rare disease is based on the genetic- molecular study of a metabolic disease panel, including the ATP7A gene and the biochemical phenotype (a decrease in serum copper and ceruloplasmin levels).In developing therapeutic strategies for individuals with Menkes disease, three fundamental problems are being addressed: 1) unlocking the absorption of copper in the intestine; 2) making copper available to enzymes in cells that require it as a cofactor; and 3) identifying infants with Menkes disease and initiating treatment at a very early stage of life, before irreversible neurodegeneration occurs. This article presents a clinical case of Menkes disease in a 7-month-old boy. The diagnosis was confi rmed by molecular genetic testing (NGS) of the Neurometabolic Disorders Panel, which included the ATP7A gene and biochemical phenotype. The described case illustrates the complexity of diagnosing Menkes disease in the neonatal period due to the non-specifi city of disease symptoms (lethargy, weak sucking, weight loss, etc.) and the importance of biochemical and molecular genetic methods of fetal investigation in subsequent pregnancies or in a newborn sibling for early diagnosis and treatment. This case will be published with the consent of the mother in accordance with bioethical principles.

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Section: вступunclassified

Menkes Disease: A Literature Review and Clinical Case

Tokarchuk,

Chekotun,

Starynets

et al. 2024

Neonatol. hìr. perinat. med.

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“…Maintaining systemic copper levels within a narrow range is essential to support normal biochemical functions, as even slight elevations can trigger cytotoxicity or cell death. Imbalances in copper levels can contribute to the development of a range of diseases, such as Wilson's disease, Menkes disease, cancer, and inflammatory diseases (5)(6)(7)(8). The mechanisms and exact forms of cell death induced by copper have remained mysterious for a considerable period.…”

Section: Introductionmentioning

confidence: 99%

Identification and validation of potential diagnostic signature and immune cell infiltration for HIRI based on cuproptosis-related genes through bioinformatics analysis and machine learning

Xiao,

Huang,

Yuan

et al. 2024

Front. Immunol.

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Background and aimsCuproptosis has emerged as a significant contributor in the progression of various diseases. This study aimed to assess the potential impact of cuproptosis-related genes (CRGs) on the development of hepatic ischemia and reperfusion injury (HIRI).MethodsThe datasets related to HIRI were sourced from the Gene Expression Omnibus database. The comparative analysis of differential gene expression involving CRGs was performed between HIRI and normal liver samples. Correlation analysis, function enrichment analyses, and protein-protein interactions were employed to understand the interactions and roles of these genes. Machine learning techniques were used to identify hub genes. Additionally, differences in immune cell infiltration between HIRI patients and controls were analyzed. Quantitative real-time PCR and western blotting were used to verify the expression of the hub genes.ResultsSeventy-five HIRI and 80 control samples from three databases were included in the bioinformatics analysis. Three hub CRGs (NLRP3, ATP7B and NFE2L2) were identified using three machine learning models. Diagnostic accuracy was assessed using a receiver operating characteristic (ROC) curve for the hub genes, which yielded an area under the ROC curve (AUC) of 0.832. Remarkably, in the validation datasets GSE15480 and GSE228782, the three hub genes had AUC reached 0.904. Additional analyses, including nomograms, decision curves, and calibration curves, supported their predictive power for diagnosis. Enrichment analyses indicated the involvement of these genes in multiple pathways associated with HIRI progression. Comparative assessments using CIBERSORT and gene set enrichment analysis suggested elevated expression of these hub genes in activated dendritic cells, neutrophils, activated CD4 memory T cells, and activated mast cells in HIRI samples versus controls. A ceRNA network underscored a complex regulatory interplay among genes. The genes mRNA and protein levels were also verified in HIRI-affected mouse liver tissues.ConclusionOur findings have provided a comprehensive understanding of the association between cuproptosis and HIRI, establishing a promising diagnostic pattern and identifying latent therapeutic targets for HIRI treatment. Additionally, our study offers novel insights to delve deeper into the underlying mechanisms of HIRI.

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Copper in hepatocellular carcinoma： A double-edged sword with therapeutic potentials

Xing

et al. 2023

Cancer Letters

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Menkes Disease

Cited by 5 publications

References 4 publications

Menkes Disease: A Literature Review and Clinical Case

Menkes Disease: A Literature Review and Clinical Case

Identification and validation of potential diagnostic signature and immune cell infiltration for HIRI based on cuproptosis-related genes through bioinformatics analysis and machine learning

Copper in hepatocellular carcinoma： A double-edged sword with therapeutic potentials

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