Linked Life Data

3205629

Source:http://linkedlifedata.com/resource/pubmed/id/3205629

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1989-2-7
pubmed:abstractText
Rectal mucosa biopsy specimens from five controls and three infants with Zellweger syndrome were investigated morphologically and biochemically to elucidate peroxisomal structure and functions in the human rectal mucosa and to develop a simple method for an early postnatal diagnosis of peroxisomal deficiency disorders. After the alkaline 3,3'-diaminobenzidine reaction, peroxisomes of the rectal mucosa from the controls could be identified, electron microscopically, but not light microscopically. However, they were strongly stained using an immunoenzyme technique applied to semi-thin Epon sections and then were clearly visible under the light microscope. However, no positive granules were observed in the specimens of infants with Zellweger syndrome, using either of the two staining techniques. On immunoblot analysis, immunoreactive proteins of peroxisomal acyl-CoA oxidase and 3-ketoacyl-CoA thiolase were present in rectal mucosae from the controls; however, these enzyme proteins were not detected in tissues from the patients. Activity of dihydroxyacetone phosphate acyltransferase was detectable in rectal mucosae from the controls, whereas in those from infants with Zellweger syndrome, the activity of this enzyme was greatly reduced. These observations indicate that the peroxisomal structure and multiple functions are present in the rectal mucosa and that rectal biopsy is of potential value for the early and less invasive detection of Zellweger syndrome and other peroxisomal disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0031-3998
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
723-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy.
pubmed:affiliation
Department of Pediatrics, Gifu University School of Medicine, Japan.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't