Down syndrome is an oxidative phosphorylation disorder

Oxidative stress in children with Down syndrome

Elevated oxidative stress in Down syndrome due to elevated levels of superoxide dismutase 1 can be assessed by estimating the products of lipid peroxidation malondialdehyde and protein carbonylation .The present study included 31 clinically diagnosed and karyotypically confirmed Down syndrome children with equal number of age and sex matched controls. The levels of malondialdehyde (6.1 ± 2.5 μm...

Oxidative stress, thyroid dysfunction & Down syndrome

Down syndrome (DS) is one of the most common chromosomal disorders, occurring in one out of 700-1000 live births, and the most common cause of mental retardation. Thyroid dysfunction is the most typical endocrine abnormality in patients with DS. It is well known that thyroid dysfunction is highly prevalent in children and adults with DS and that both hypothyroidism and hyperthyroidism are more ...

Top-down control analysis of temperature effect on oxidative phosphorylation.

The effects of temperature on the control of respiration rate, phosphorylation rate, proton leakage rate, the protonmotive force and the effective ATP/O ratio were determined in isolated rat liver mitochondria over a range of respiratory conditions by applying top-down elasticity and control analyses. Simultaneous measurements of membrane potential, oxidation and phosphorylation rates were perf...

Identification of collaborative activities with oxidative phosphorylation in bipolar disorder

UNLABELLED Bipolar disorder (BD) is a psychiatric disease considered to polygenic with multiple factors in genetics, each of which is not dominant but collaborative during pathogenic progression. We describe a method that estimates the collaborative contribution to the disease between a certain well-studied pathway and the other candidate pathway using Gene Set Enrichment Analysis (GSEA). We de...

Down syndrome: Genes to Brains to Behavior 1 Down syndrome: A Genetic Disorder in Biobehavioral Perspective