these disorders of cholesterol synthesis
Cholesterol is essential for neuroactive steroid production, growth of myelin membranes, and normal embryonic and fetal development. It also modulates the oxytocin receptor, ligand activity and G-protein coupling of the serotonin-1A receptor. A deficit of cholesterol may perturb these biological mechanisms and thereby contribute to autism spectrum disorders (ASDs), as observed in Smith-Lemli-Opitz syndrome (SLOS) and some subjects with ASDs in the Autism Genetic Resource Exchange (AGRE). A clinical diagnosis of SLOS can be confirmed by laboratory testing with an elevated plasma 7DHC level relative to the cholesterol level and is treatable by dietary cholesterol supplementation. Individuals with SLOS who have such cholesterol treatment display fewer autistic behaviours, infections, and symptoms of irritability and hyperactivity, with improvements in physical growth, sleep and social interactions. Other behaviours shown to improve with cholesterol supplementation include aggressive behaviours, self-injury, temper outbursts and trichotillomania. Cholesterol ought to be considered as a helpful treatment approach while awaiting an improved understanding of cholesterol metabolism and ASD. There is an increasing recognition that this single-gene disorder of abnormal cholesterol synthesis may be a model for understanding genetic causes of autism and the role of cholesterol in ASD.
Seven disorders of post-squalene cholesterol biosynthesis will be ..
Cholesterol Synthesis Disorders | SpringerLink
Prevention of atherosclerotic vascular disease and age-related disorders will be by utilization of cholesterol lowering agents or techniques and/or treatment with statins and/or bisphosphonates to inhibit IL-6 inflammation through regulation of cholesterol metabolism.
Disorders of Cholesterol Biosynthesis, Genetics of
Most of the cholesterol present in the body is synthesized in the liver, but a proportion is also absorbed from the diet of fat-rich foodstuffs like animal fats and oils, milk, and yolk of egg.
Statins inhibit hepatic cholesterol synthesis.
Battaile KP and Steiner RD (2000) Smith–Lemli–Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Molecular Genetics and Metabolism 71 (1–2): 154–162.