Linked Life Data

18282164

Source:http://linkedlifedata.com/resource/pubmed/id/18282164

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-10-10
pubmed:abstractText
Aceruloplasminemia is an autosomal recessive disorder characterized by a ceruloplasmin gene mutation and defective or absent ceruloplasmin function. Because ceruloplasmin functions in iron transport and storage, aceruloplasminemia leads to excessive iron accumulation systemically and within the CNS. The type and form of iron deposited is unclear and while oxidative stress was hypothesized as a potential mechanism of cytotoxicity in this disorder, direct evidence linking oxidative stress to the underlying genetic defect has not been provided. To address these issues, we studied autopsy brain tissue from two subjects with genetically confirmed aceruloplasminemia using an assay developed in our laboratory for redox-active iron assessment. We found iron deposited in perivascular areas, localizing to terminal astrocytic processes and further showed that this iron was redox active. These data are consistent with the concept that oxidative stress, driven by heavy metal accumulation, represents the primary cellular cytotoxic process, accounting for neuronal damage in affected brain regions. As such, aceruloplasminemia is an excellent model of transition metal-driven oxidative stress and neurodegeneration.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1440-1789
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
466-71
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Redox active iron accumulation in aceruloplasminemia.
pubmed:affiliation
Department of Pathology, University of Maryland, Baltimore, Maryland 21201, USA.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't