A. Significance
Copper is one of the most abundant transition metals in the human body and its redox characteristics make copper an important cofactor in many enzymes. Copper containing enzymes are important for tissue generation, synthesis of neurotransmitters, and catalysis of the electron transfer reactions.1 Because of its diverse functions, copper homeostasis deficiency is linked to many diseases. A prominent example is Wilson’s disease with a prevalence of approximately 1 case in 30,000 live. It is caused by mutation in the gene of the copper exporter protein ATP7B. Copper hyperaccumulation in Wilson’s disease can induce liver damage, neurologic complications, and psychiatric abnormalities. Wilson’s disease is one of potentially fatal disease but it is easily treated and almost completely reversible if …show more content…
This unique situation places Wilson’s disease in a category of importance well beyond its frequency.2 Therefore, it is critically important to make the diagnosis and get the patient on treatment at the early stage of disease. Despite the importance of early diagnosis, recognizing Wilson’s disease remains a challenge. Among the current technologies of diagnosis, Magnetic resonance image (MRI), electroencephalogram (EEG) are noninvasive but not specific for Wilson’s disease. Genetic tests are highly accurate but it is not globally applicable due to too different mutations and variability between populations and regions. Biofluid tests rely on sample treatment and copper detection by ICP-MS or Atomic Absorption Spectroscopy, both of which are expensive, time-consuming and not easily acccessible.3 Diagnosis of Wilson’s disease could be considerably simplified by the development of chemoselective copper frameworks that give direct read-outs of copper concentration in
Copper is one of the most abundant transition metals in the human body and its redox characteristics make copper an important cofactor in many enzymes. Copper containing enzymes are important for tissue generation, synthesis of neurotransmitters, and catalysis of the electron transfer reactions.1 Because of its diverse functions, copper homeostasis deficiency is linked to many diseases. A prominent example is Wilson’s disease with a prevalence of approximately 1 case in 30,000 live. It is caused by mutation in the gene of the copper exporter protein ATP7B. Copper hyperaccumulation in Wilson’s disease can induce liver damage, neurologic complications, and psychiatric abnormalities. Wilson’s disease is one of potentially fatal disease but it is easily treated and almost completely reversible if …show more content…
This unique situation places Wilson’s disease in a category of importance well beyond its frequency.2 Therefore, it is critically important to make the diagnosis and get the patient on treatment at the early stage of disease. Despite the importance of early diagnosis, recognizing Wilson’s disease remains a challenge. Among the current technologies of diagnosis, Magnetic resonance image (MRI), electroencephalogram (EEG) are noninvasive but not specific for Wilson’s disease. Genetic tests are highly accurate but it is not globally applicable due to too different mutations and variability between populations and regions. Biofluid tests rely on sample treatment and copper detection by ICP-MS or Atomic Absorption Spectroscopy, both of which are expensive, time-consuming and not easily acccessible.3 Diagnosis of Wilson’s disease could be considerably simplified by the development of chemoselective copper frameworks that give direct read-outs of copper concentration in