scholarly journals Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency

2008 ◽  
Vol 29 (6) ◽  
pp. E47-E57 ◽  
Author(s):  
Lisa M. Bailey ◽  
Ruby A. Ivanov ◽  
Sarawut Jitrapakdee ◽  
Callum J. Wilson ◽  
John C. Wallace ◽  
...  
Keyword(s):  
Half Life ◽  
Holocarboxylase Synthetase ◽  
Multiple Carboxylase Deficiency

scholarly journals Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

2004 ◽  
Vol 279 (50) ◽  
pp. 52312-52318 ◽  
Author(s):  
Diana Pacheco-Alvarez ◽  
R. Sergio Solórzano-Vargas ◽  
Roy A. Gravel ◽  
Rafael Cervantes-Roldán ◽  
Antonio Velázquez ◽  
...  
Keyword(s):  
High Dose ◽  
Mrna Levels ◽  
Holocarboxylase Synthetase ◽  
Biotin Deficiency ◽  
Multiple Carboxylase Deficiency ◽  
Regulatory Impact ◽  
Normal Metabolism ◽  
Liver And Kidney ◽  
Essential Function ◽  
The Brain

Holocarboxylase synthetase (HCS) catalyzes the biotinylation of five carboxylases in human cells, and mutations of HCS cause multiple carboxylase deficiency (MCD). Although HCS also participates in the regulation of its own mRNA levels, the relevance of this mechanism to normal metabolism or to the MCD phenotype is not known. In this study, we show that mRNA levels of enzymes involved in biotin utilization, including HCS, are down-regulated during biotin deficiency in liver while remaining constitutively expressed in brain. We propose that this mechanism of regulation is aimed at sparing the essential function of biotin in the brain at the expense of organs such as liver and kidney during biotin deprivation. In MCD, it is possible that some of the manifestations of the disease may be associated with down-regulation of biotin utilization in liver because of the impaired activity of HCS and that high dose biotin therapy may in part be important to overcoming the adverse regulatory impact in such organs.

scholarly journals Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency

2008 ◽  
Vol 283 (49) ◽  
pp. 34150-34158 ◽  
Author(s):  
Anylu Pérez-Monjaras ◽  
Rafael Cervantes-Roldán ◽  
Iván Meneses-Morales ◽  
Roy A. Gravel ◽  
Sandra Reyes-Carmona ◽  
...  
Keyword(s):  
Late Onset ◽  
Holocarboxylase Synthetase ◽  
Multiple Carboxylase Deficiency ◽  
Biotinidase Activity
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