Pathogenesis of Wilson disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10364474" target="_blank" >RIV/00216208:11110/17:10364474 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/17:10364474

Result on the web

<a href="http://dx.doi.org/10.1016/B978-0-444-63625-6.00005-7" target="_blank" >http://dx.doi.org/10.1016/B978-0-444-63625-6.00005-7</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/B978-0-444-63625-6.00005-7" target="_blank" >10.1016/B978-0-444-63625-6.00005-7</a>

Result language

angličtina

Original language name

Pathogenesis of Wilson disease

Original language description

Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms. Hepatocyte dysfunction initially manifests as steatosis and later may progress to other hepatic phenotypes such as acute liver failure, hepatitis, and fibrosis. In the brain, copper accumulates in astrocytes, leading to impairment of the blood-brain barrier and consequent damage to neurons and oligodendrocytes. Basal ganglia and brainstem are the brain regions with highest susceptibility to copper toxicity and their lesions lead to various combinations of movement and psychiatric disorders. This chapter will give an overview of the essential requirement of copper for biologic processes and the molecular mechanisms employed by cells to maintain their copper levels in a proper range. We will specify the physiologic functions of ATP7B and the consequences of its dysfunction and summarize the current knowledge on the pathogenesis of liver and neuropsychiatric disease. Finally, we will describe the consequences of copper overload in Wilson disease in other tissues

Czech name

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Czech description

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Type

C - Chapter in a specialist book

CEP classification

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OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

<a href="/en/project/NV15-25602A" target="_blank" >NV15-25602A: Biomarkers of progression and treatment response in neurodegenerative disorders</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Book/collection name

Wilson disease

ISBN

978-0-444-63625-6

Number of pages of the result

13

Pages from-to

43-55

Number of pages of the book

264

Publisher name

Elsevier Science

Place of publication

Amsterdam

UT code for WoS chapter

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