Posts Categorized: Part 14: METALS

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

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Copper is an essential metal but its overload causes Wilson disease, a disorder due to mutations in copper transporter ATP7B. To remove excess copper into the bile, ATP7B traffics toward canalicular area of hepatocytes. However, the trafficking mechanisms of ATP7B remain elusive. Polishchuk and colleagues show that, in response to elevated copper, ATP7B moves from the Golgi to […]

A novel inborn error of vitamin B12 metabolism

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Coelho et al. have identified a new disease that results in failure to release vitamin B12 from lysosomes. Affected patients present with methylmalonic aciduria and hyperhomocysteinemia. This disorder is caused by mutations in ABCD4, a gene that encodes for an ABC transporter, which was previously thought to have peroxisomal localization and function. ABCD4 colocalizes with […]

Oxidative stress & Wilson disease

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A recent study by Bruha et al. suggests that increased oxidative stress may contribute significantly to the clinical manifestation of Wilson disease, an inherited disorder of copper disposition caused by an ATP7B transporter gene mutations. Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms. Bruha et al. J Inherit Metab […]

Disorders of selenium metabolism

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A review of  disorders of selenium metabolism and selenoproteins was recently publised in Current Opinion in Pediatrics. It includes up to date descriptions of SECISBP2 syndrome, causing thyroid dysfunction and growth retardation, and SEPSECS mutations causing progressive cerebellar and cerebral atrophy. Other abnormalities seen in impaired selenium metabolism include impaired muscle function, and immune deficits. (Schweizer et al, Current Opinion […]

Treatment of Wilson disease with NaPB

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Chaperones such as phenylbutyrate and curcumin can be used to treat conditions with misfolded proteins such as ATP7 in Wilson Disease. Hepatology. 2009 Dec;50(6):1783-95. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de […]

Epilepsy in Menkes disease

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Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia. 2006 Feb;47(2):380-6. Bahi-Buisson N et al. 12 patients with Menkes disease are studied. Their epilepsy is characterized by three successive periods: early focal status infantile spasms myoclonic and multifocal epilepsy For more information on Menkes disease, please see chapter 126 Thank you very much in advance […]