Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis

Article Abstract:

A resolution has been achieved for the problem of finding the true molecular and enzymatic mechanism of peroxisomal bifunctional protein deficiency. The origin of the defect has not been known although numerous patients were described. Complementation analysis to establish the extent of the genetic heterogeneity in the patients has been carried out by various groups. Most patients were L-BP-deficient but no mutations were found in the cDNA encoding L-BP. Since a new bifunctional protein was discovered, a patient presumed to have L-BP deficiency was studied again, and it was found that the true defect is at the level of the D-BP, not at the L-BP level. The hypothesis was tested in 9 patients diagnosed with L-BP deficiency with complementation analysis. Mutations in the D-BP cDNA were clear in all of them.

Japan, Austria, Netherlands, Germany, Physiological aspects, Chromosome mapping, Genetic disorders, Peroxisomes, Protein deficiency

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Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy

Article Abstract:

The first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids, is described. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons.

All Other Miscellaneous Chemical Product and Preparation Manufacturing, Chemical preparations, not elsewhere classified, Fatty Acids & Derivatives, Health aspects, Gene mutations, Gene mutation, Magnetic resonance imaging

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Genetic basis for correction of very-long-chain acyl-coenzyme a dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

Article Abstract:

The article investigates the effects of bezafibrate on fatty-acid oxidation (FAO) capacities for very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficient genotypes from patient cells. Bezafibrate is found to improve the FAO defect in patient cells.

Care and treatment, Gene therapy, Oxidoreductases, Fibroblasts, Fatty acid desaturases

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