Investigated and available therapeutic options for treating aceruloplasminemia

Abstract

Introduction: Ceruloplasmin regulates the efficiency of iron efflux from the cells, functioning as a ferroxidase, and stabilizes the cell surface iron transporter ferroportin. Aceruloplasminemia is an autosomal recessive disorder associated with iron accumulation in the brain and viscera caused by loss-of-function mutations encoding the ceruloplasmin gene. The clinical manifestations of retinal degeneration, diabetes mellitus, iron-refractory anemia and neurologic disease correspond to the regions of iron deposition.

Areas covered: Oxidative stress and increased lipid peroxidation are closely related to the increased iron levels in the brain and visceral organs. Iron-chelating agents decrease brain and liver iron stores, improve the diabetic mellitus condition and prevent the progression of neurologic symptoms in symptomatic individuals. However, there is no universally accepted regimen.

Expert opinion: Zinc concentrations in these patients were decreased in the brain and visceral organs, and zinc showed opposing distributions to those for iron. Because zinc has antioxidant activity, treatment with an iron chelator accompanied by zinc may be useful in patients with aceruloplasminemia to diminish iron accumulation in the brain and body and to prevent or ameliorate systemic and neurologic symptoms.

Keywords:

• ceruloplasmin
• ferroxidase
• iron
• iron chelator
• non-transferrin-bound iron
• oxidative stress
• zinc

Acknowledgments

The author thanks coworker, S Kono, The First Department of Medicine, Hamamatsu University School of Medicine.

Declaration of interest

The work was supported by a Grant-in-Aid for Scientific Research from The Ministry of Education, Culture, Sports, Science and technology. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.

Notes

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