The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria.
Mevalonic aciduria belongs to a group of rare inherited metabolic disorders related to cholesterol biosynthesis. The pathogenesis of mevalonic aciduria is not clear, although the cause is known - a genetic defect leading to a deficiency in mevalonate kinase activity. The lack of non-steroid isoprenoids in patients with mevalonic aciduria might cause oxidative stress due to a decreased production of endogenous antioxidants including ubiquinone 10, selenoproteins and glutathione peroxidase. The Moosmann-Behl hypothesis of statin-induced muscular and neuronal damage mediated by oxidative stress might explain at least partially the pathogenesis of mevalonic aciduria. Studies focusing on the role of oxidative stress in patients suffering from disorders in cholesterol biosynthesis are needed to support adjuvant antioxidative treatment.
Institute of Pathophysiology, Faculty of Medicine, Comenius University, Sasinkova 4, 811 08 Bratislava, Slovak Republic. petercelec@gmail.com
Peter
P
Celec
Michal
M
Behuliak
D000975:Antioxidants / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D005979:Glutathione Peroxidase / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy* / Q000473:pathology*; D008954:Models, Biological; D009154:Mutation; D009474:Neurons / Q000378:metabolism; D018384:Oxidative Stress; D017279:Selenocysteine / Q000378:metabolism; D051140:Selenoproteins / Q000378:metabolism; D013729:Terpenes / Q000737:chemistry / Q000378:metabolism*
D000975:Antioxidants; D051140:Selenoproteins; D013729:Terpenes; D017279:Selenocysteine; D002784:Cholesterol; D005979:Glutathione Peroxidase