Document Detail

Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy.
MedLine Citation:
PMID:  3205629     Owner:  NLM     Status:  MEDLINE    
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.
N Shimozawa; Y Suzuki; T Orii; S Yokota; T Hashimoto
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric research     Volume:  24     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  1988 Dec 
Date Detail:
Created Date:  1989-02-07     Completed Date:  1989-02-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  723-7     Citation Subset:  IM    
Department of Pediatrics, Gifu University School of Medicine, Japan.
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MeSH Terms
Intestinal Mucosa / ultrastructure
Microbodies / metabolism,  ultrastructure*
Microscopy, Electron
Rectum / pathology*
Zellweger Syndrome / pathology*

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