1. The PBDs can be caused by defects in peroxisomal matrix protein import or peroxisome membrane synthesis. Immunofluorescence microscopy shows that human skin fibroblasts from an unaffected individual (A, B) have numerous peroxisomes that contain both integral peroxisomal membrane proteins and peroxisomal matrix proteins, shown here by staining for (A) PMP70 and (B) the matrix enzyme, catalase. Skin fibroblasts from a PEX10-deficient patient, PBD have (C) numerous PMP70-containing peroxisomes, but (D) are unable to import catalase into these peroxisomes, indicating that PEX10 plays a specific role in peroxisomal matrix protein import. In contrast, skin fibroblasts from a PEX3-deficient patient, PBD401,57 (E) lack detectable peroxisomes when stained for PMP70 or (data not shown) any of several other integral peroxisomal membrane proteins. Such cells obviously cannot import peroxisomal matrix proteins (F) such as catalase and provide evidence that genes such as PEX3 play important roles in peroxisome membrane biogenesis. Bar = 20 μM. (Photo courtesy of ST South and SJ Gould.)
Source: The Peroxisome Biogenesis Disorders, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: January 24, 2018
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