Peroxisomal dysfunction in inflammatory childhood white matter disorders: an unexpected contributor to neuropathology.
The peroxisome, an ubiquitous subcellular organelle, plays an important function in cellular metabolism, and its importance for human health is underscored by the identification of fatal disorders caused by genetic abnormalities. Recent findings indicate that peroxisomal dysfunction is not only restricted to inherited peroxisomal diseases but also to disease processes associated with generation of inflammatory mediators that downregulate cellular peroxisomal homeostasis. Evidence indicates that leukodystrophies (i.e. X-linked adrenoleukodystrophy, globoid cell leukodystrophy, and periventricular leukomalacia) may share common denominators in the development and progression of the inflammatory process and thus in the dysfunctions of peroxisomes. Dysfunctions of peroxisomes may therefore contribute in part to white matter disease and to the mental and physical disabilities that develop in patients affected by these diseases.
Singh
Inderjit
I
Department of Pediatrics, Division of Developmental Neurogenetics, Charles Darby Children's Research Institute, Medical University of South Carolina, Charleston, South Carolina 29425, USA. singhi@musc.edu
Singh
Avtar K
AK
Contreras
Miguel A
MA
D000818:Animals; D001927:Brain Diseases / Q000150:complications / Q000209:etiology / Q000473:pathology; D006801:Humans; D007249:Inflammation / Q000150:complications*; D001523:Mental Disorders / Q000209:etiology; D018901:Peroxisomal Disorders / Q000209:etiology* / Q000473:pathology*