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Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's
Insights
Dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity is reduced in Refsum's disease and Zellweger's syndrome. This suggests varying degrees of peroxisomal biogenesis defects in these related genetic disorders.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Refsum's disease (RD), infantile Refsum's disease (IRD), and Zellweger's syndrome (ZS) are genetic disorders affecting peroxisomal function.
- Peroxisomal biogenesis defects lead to a range of clinical manifestations.
Purpose of the Study:
- To investigate the activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT) in fibroblasts from patients with RD, IRD, and ZS.
- To determine the relationship between DHAP-AT activity and the severity of peroxisomal biogenesis defects in these diseases.
Main Methods:
- Enzyme activity assays were performed on fibroblast cultures.
- Fibroblast and amniocyte samples were obtained from controls and patients diagnosed with RD, IRD, and ZS.
Main Results:
- DHAP-AT activity was severely reduced in Zellweger's syndrome fibroblasts and amniocytes.
- A partial deficiency in DHAP-AT activity was observed in fibroblast cultures from patients with classical Refsum's disease and infantile Refsum's disease.
- These findings indicate a correlation between DHAP-AT activity levels and the degree of peroxisomal dysfunction.
Conclusions:
- Zellweger's syndrome, classical Refsum's disease, and infantile Refsum's disease represent distinct but related conditions.
- The varying degrees of DHAP-AT deficiency highlight differential impacts on peroxisomal biogenesis in these disorders.
Abstract:
We measured the activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT) in fibroblasts of controls and patients with classical Refsum's disease (RD), infantile Refsum's disease (IRD) and Zellweger's syndrome (ZS). We confirmed that DHAP-AT activity is severely reduced in ZS fibroblasts and amniocytes. We also demonstrated a partial deficiency of DHAP-AT activity in RD and IRD fibroblast cultures. These diseases are probably distinct but related entities in which peroxisomal biogenesis is affected to varying degrees.