What is mitochondrial complex IV deficiency?
What is mitochondrial complex IV deficiency?
▼ Description. Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development.
What causes cytochrome oxidase deficiency?
In most cases, cytochrome c oxidase deficiency is caused by mutations that alter the proteins that assemble the holoenzymes. As a result, the holoenzymes are either partially assembled or not assembled at all. Without complete holoenzymes, cytochrome c oxidase cannot form.
What happens when cytochrome c oxidase is inhibited?
Cytochrome oxidase inhibition has been shown to induce a hibernation-like or suspended-animation state. Reversible inhibition of cytochrome oxidase with carbon monoxide arrests embryogenesis in Caenorhabditis elegans embryos yet preserves their viability in hypoxic conditions.
What would be the problem of complex I deficiency at a cellular level?
People with mitochondrial complex I deficiency typically have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia).
What is Cox disease?
Cytochrome C Oxidase (COX) deficiency is a very rare inherited metabolic disorder characterized by a deficiency of the enzyme cytochrome C oxidase or Complex IV. Cytochrome C oxidase is an essential enzyme that is active in subcellular structures that help to regulate energy production (mitochondria).
What happens if complex IV is inhibited?
The blocklock of complex IV by cyanide depletes ATP culminating in cell death. Oxygen is unable to reoxidize the reduced cytochrome a3. Thus, cellular respiration is inhibited, as well as ATP production, in essence depriving the cells, tissue, and, ultimately, the whole body of oxygen.
What causes complex deficiency?
Most cases of Complex I deficiency result from autosomal recessive inheritance (combination of defective nuclear genes from both the mother and the father). Less frequently, the disorder is maternally inherited or sporadic and the genetic defect is in the mitochondrial DNA.
Is mitochondrial disease an autoimmune disease?
Mitochondrial DAMPs are important in triggering and maintaining immune responses. Mitochondrial dysfunction may play a role in the pathophysiology of autoimmune disease.
