Molecular analysis of a human liver mitochondrial ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 14(1): 29-36, 1991.
Article
in En
| MEDLINE
| ID: mdl-1713629
ABSTRACT
The liver of a young girl which had been successfully transplanted was investigated at the ornithine transcarbamylase (OTC, EC 2.1.3.3) gene expression level. Northern blot hybridization using a human OTC cDNA probe showed a greater than 80% decrease in specific OTC mRNA although having the same molecular size as a normal control. OTC polypeptide was simultaneously synthesized with a normal molecular size but at a low level (20%) as shown by immunoblotting. The OTC enzyme from the deficient liver exhibited very little catalytic activity (7.2% as compared to the normal subject). These results may support several explanations of this disease such as mutation of the OTC gene promoter leading to a low transcriptional activity or mutation of the encoding sequence which results in a modified translation product but with a normal size. mRNA instability may also occur.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mitochondria, Liver
/
Ornithine Carbamoyltransferase Deficiency Disease
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
J Inherit Metab Dis
Year:
1991
Document type:
Article
Affiliation country:
France