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Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders
B T Poll-The1, O H Skjeldal, O Stokke
1Clinique et Unité de Recherche de Génétique Médicale, INSERM U. 12, Hôpital des Enfants Malades, Paris, France.
Human Genetics
|January 1, 1989
Summary
This study investigates phytanic acid metabolism in Refsum's disease and other peroxisomal disorders. Four genes are implicated in phytanic acid alpha-oxidation, crucial for peroxisome function.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Phytanic acid accumulation causes Refsum's disease.
- Peroxisomal disorders affect various metabolic pathways.
Purpose of the Study:
- To investigate phytanic acid alpha-oxidation in patient fibroblasts.
- To identify genes involved in phytanic acid metabolism and peroxisome biogenesis.
Main Methods:
- Measurement of 14CO2 production from [1-14C] phytanic acid.
- Fibroblast complementation analysis using polyethylene glycol fusion.
Main Results:
- Reduced phytanic acid alpha-oxidation in classical Refsum's disease and Zellweger syndrome.
- Complementation studies identified four distinct genetic groups involved in phytanic acid alpha-oxidation.
- Specific genes identified for phytanic acid alpha-hydroxylase, a regulatory factor, plasmalogen synthesis enzymes, and peroxisome assembly/import.
Conclusions:
- At least four genes are essential for phytanic acid alpha-oxidation.
- These genes are involved in enzyme activity, regulation, plasmalogen synthesis, and peroxisome biogenesis.
- Defects in these genes lead to peroxisomal disorders like Refsum's disease.