Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

[neonatal adrenoleukodystrophy]

The presence of peroxisomal membrane ghosts was examined in liver biopsies from eleven patients presenting the clinical and biochemical picture of a generalized peroxisomal disorder (Zellweger syndrome , neonatal adrenoleukodystrophy , infantile Refsum disease and variants of these syndromes ). A polyclonal antibody raised against the membrane of human liver peroxisomes and recognizing a 43 kDa peroxisomal membrane protein (PMP ) was used . In human control liver the antibodies react in a distinct and specific way with the peroxisomal membrane . Two types of organelles with an immunoreactive membrane were identified in the liver parenchymal cells of the patients : organelles containing an electron-dense core and organelles with electron transparent contents . Both types may co -occur in the same patient ; in two patients they were found in the same cell . The organelles are rare , and their number varies between patients . The first type possibly corresponds to the previous morphological description of aberrant peroxisomes in the liver of patients with Zellweger syndrome , neonatal adrenoleukodystrophy and infantile Refsum disease . The empty looking organelles have not been reported previously in the liver , some of the "empty " organelles seem to be enclosed by a double membrane . Morphometrical analysis in three patients indicated that both types of organelles (corrected mean d-circle 0 .271 -0 .306 micron for the "empty " and the dense core organelles , respectively ) are smaller than the peroxisomes in postnatal control liver and in fetal liver . In one patient (infantile Refsum disease ) immunoreactive organelles were not detected . The organelles with the electron-dense core were not found in two patients .(ABSTRACT TRUNCATED AT 250 WORDS )