Sereni C, Paturneau-Jouas M
Neurobiologie Cellulaire, Moléculaire et Clinique, INSERM U 134, CNRS UA, Hôpital de la Salpêtrière, Paris.
Rev Neurol (Paris). 1989;145(5):341-9.
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.
过氧化物酶体是普遍存在的亚细胞细胞器,其数量、大小和酶含量因物种、组织或生理状态而异。微过氧化物酶体存在于中枢神经系统和肌肉中。过氧化物酶体参与合成代谢和分解代谢过程,包括醚脂合成、β氧化、胆汁酸合成、前列腺素分解代谢。极长链脂肪酸是过氧化物酶体酰基辅酶A氧化酶的特定底物。过氧化物酶体疾病主要分为两类:1/过氧化物酶体功能多种缺陷的疾病:泽尔韦格综合征、新生儿肾上腺脑白质营养不良、婴儿型雷夫叙姆病、肢根型点状软骨发育不良;2/单一过氧化物酶体酶缺陷的疾病:X连锁肾上腺脑白质营养不良、无过氧化氢酶血症、I型高草酸尿症、假泽尔韦格综合征。目前的治疗是试验性的,取得了一些有限的成功。它包括过氧化物酶体诱导剂和脂质控制饮食。产前诊断和杂合子检测可为某些过氧化物酶体疾病提供遗传咨询。