Epidemiology, Evaluation and Management of Wilson Disease: Review Article

Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive ailment characterized by aberrant copper buildup in the body, with the brain, liver, and cornea being notably affected. Wilson illness is caused by a mutation in the ATP7B gene on chromosome 13, which regulates the protein transporter that excretes excess copper into the bile and out of the body. So far, over 500 mutations have been discovered. The most common treatment for WD is D-penicillamine (D-PCA). Patients with severe spasms, deformities, or dysphonia, as well as those who are allergic to D-PCA, should avoid it. Early Diagnosis is a key factor in saving patient’s live, and thus prober investigation should be done as soon as possible. Family screening is a must when a patient is diagnosed to role out any other patients in the family with the disease and because of the strong genetic factor impacting the disease. early detection is critical for initiating therapy in the early, asymptomatic stages of the disease, rather than when liver decompensation or extensive neurological irreversible harm has already occurred. In this circumstance, the optimum technique is to finish copper investigations in the index patient's first- and second-degree relatives. In the present article we’ll be discussing disease prevalence, etiology and more importantly diagnosis and management.

Wear behavior of self-propagating high-temperature synthesized Cu-TiO2 nanocomposites

In this paper, the copper-based nanocomposites with TiO2 nanoparticles were synthesized by the self-propagating high-temperature synthesis (SHS) process. The effect of the different amounts of excess copper, in comparison with the stoichiometric ratio (CuO:Ti ratios of 1:1, 2:1, and 3:1), on the phase formation of achieved samples was studied. A thermodynamical study showed that increasing the excess copper powder reduces the adiabatic temperature, which helps the phase formation. The maximum Brinell hardness (89) was obtained for the sample with the CuO:Ti ratio of 1:1. Finally, the wear behavior of the synthesized nanocomposites was evaluated by the pin on disk test, and the variation of friction coefficient and lost weight were measured. The friction coefficient decreased by the formation of phases and distribution of titanium oxide particles during the SHS process in the presence of the stoichiometric ratio of CuO:Ti. Therefore, the wear behavior was improved. The lowest depth of wear trace was measured 0.68 where the ratio of CuO: Ti was 1:1.

Physiological responses of Vicia faba to copper toxicity

Copper plays an important role in multiple plant physiological processes including photosynthesis and protein synthesis. Excess copper in tissues leads to physiological and biochemical disturbances. In order to determine the physiological response of Vicia faba L. to copper toxicity, two varieties (Sidi Aïch and Super Aguadulce) were grown in a substrate of sand and compost (3V/V) and contaminated by different doses of Cu (0, 80, 160, 240, 320, 400 mg kg-1). Dose rates ≥160 mg kg-1 led to the accumulation of copper in roots and shoots, in turn leading to decreases in photosynthetic activity and protein content and to the accumulation of proline, a stress indicator, and soluble sugars.

Wilson Disease in Children: Diagnosis and Management Update

Wilson disease is an autosomal recessive, copper storage disease, caused by a mutation in the ATP7B gene. Due to mutation in ATP7B is decreased secretion of ceruloplasmin into blood and decrease in excretion of copper into bile. Excess copper accumulate to toxic levels,mainly in the liver and secondarily in other organs. Children clinically become symptomatic after the age of 5 years. Clinical features ranges from asymptomatic raised transaminases to variable degree of liver disease, neurological symptoms and according involvement of other oragns. Diagnosis of Wilson disease is challenging. Modified Leip-zig score is useful for diagnosis. Treatment can be done with zinc and other chelators. KYAMC Journal Vol. 11, No.-4, January 2021, Page 212-217

Subnuclear gene positioning through lamina association affects copper tolerance

The nuclear lamina plays an important role in the regulation of chromatin organization and gene positioning in animals. CROWDED NUCLEI (CRWN) is a strong candidate for the plant nuclear lamina protein in Arabidopsis thaliana but its biological function was largely unknown. Here, we show that CRWNs localize at the nuclear lamina and build the meshwork structure. Fluorescence in situ hybridization and RNA-seq analyses revealed that CRWNs regulate chromatin distribution and gene expression. More than 2000 differentially expressed genes were identified in the crwn1crwn4 double mutant. Copper-associated (CA) genes that form a gene cluster on chromosome 5 were among the downregulated genes in the double mutant exhibiting low tolerance to excess copper. Our analyses showed this low tolerance to copper was associated with the suppression of CA gene expression and that CRWN1 interacts with the CA gene locus, enabling the locus to localize at the nuclear lamina under excess copper conditions.