A CORRELATIVE STUDY OF THE ADRENAL-CORTEX IN ADRENO-LEUKODYSTROPHY - EVIDENCE FOR A FATAL INTOXICATION WITH VERY LONG-CHAIN SATURATED FATTY-ACIDS

  • 1 January 1980
    • journal article
    • research article
    • Vol. 3  (4) , 353-376
Abstract
Thiry adrenal glands from patients with adreno-leukodystrophy (ALD) have been studied by light microscopy, 3 by enzyme histochemistry, 3 by EM and 2 by tissue culture. Cytoplasmic ballooning and striations result from proliferation of smooth endoplasmic reticulum and accumulations of lamellar-lipid profiles and clear clefts (crystalloids). Striated adrenocortical cells, the only pathognomonic adrenal lesion in ALD, display cytoplasmic lamellae, decreased amounts of rough endoplasmic reticulum and depression of several enzymes (.alpha. glycerophosphate dehydrogenase, 3.beta.-hydroxysteroid dehydrogenase and TPNH diaphorase). The striated cells demonstrate decreased ability to adapt to changes in microenvironment, in vivo and in vitro. A blunted response by striated cells to focal peripheral cytolysis leads to cytoplasmic erosion, atrophy and macrovacuoles. ACTH has a pivotal role in the evolution of these lesions. The pathognomonic lamellae of ALD basically represent bilayers or bimolecular leaflets of very long chain saturated fatty acids, while lamellar-lipid profiles and clefts contain cholesterol esterified to these abnormal fatty acids. The similarity of lamellar-lipid profiles of ALD to cytoplasmic lesions, induced by long chain saturated fatty acids, suggests that the very long chain saturated fatty acids isolated in ALD are cytotoxic and are responsible for adrenocortical cell dysfunction in this disease.

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