[Peroxisomes and neurologic diseases].
Peroxisomes are ubiquitous subcellular organelles varying in number, size and enzymatic content according to species, tissues or physiological states. Microperoxisomes are present in the central nervous system and in muscle. Peroxisomes participate in anabolic and catabolic processes, including ether-lipid synthesis, bêta-oxidation, bile acid synthesis, prostaglandin catabolism. Very long chain fatty acids are specific substrates of peroxisomal acyl-CoA oxidase. Peroxisomal disorders occur as two main groups: 1/ disorders with multiple deficiencies of peroxisomal functions: Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, rhizomelic chondrodysplasia punctata; 2/ disorders with a single peroxisomal enzyme defect: X-linked adrenoleukodystrophy, acatalasemia, type 1 hyperoxaluria, pseudo-Zellweger syndrome. Present therapy is tentative with some limited success. It includes peroxisomal inductors and lipid-controlled diet. Prenatal diagnosis and heterozygote detection allow genetic counselling in some peroxisomal disorders.
Sereni
C
C
Neurobiologie Cellulaire, Moléculaire et Clinique, INSERM U 134, CNRS UA, Hôpital de la Salpêtrière, Paris.
Paturneau-Jouas
M
M
D000326:Adrenoleukodystrophy / Q000209:etiology; D002374:Catalase / Q000097:blood; D002806:Chondrodysplasia Punctata / Q000209:etiology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000209:etiology; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006959:Hyperoxaluria / Q000209:etiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000209:etiology; D008830:Microbodies / Q000502:physiology; D010951:Plasma Exchange; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012035:Refsum Disease / Q000209:etiology; D014960:X Chromosome; D015211:Zellweger Syndrome / Q000209:etiology
D005227:Fatty Acids; D002374:Catalase
Peroxysomes et pathologie neurologique.