PET100
PET100 is a gene that in humans is encoded by the PET100 homolog (S. cerevisiae) protein. It is a mitochondrial protein that is necessary for the assembly and stability of cytochrome c oxidase, a key enzyme in cellular respiration. Mutations in the PET100 gene have been associated with mitochondrial complex IV deficiency, a type of mitochondrial disease.
Function[edit | edit source]
The PET100 protein is a chaperone protein that assists in the assembly of cytochrome c oxidase (COX), a component of the mitochondrial respiratory chain. This protein is thought to play a role in the biogenesis of COX and is essential for the stability of the holoenzyme.
Clinical significance[edit | edit source]
Mutations in the PET100 gene can lead to mitochondrial complex IV deficiency, a disorder characterized by a variety of clinical manifestations including hypotonia, developmental delay, encephalopathy, and cardiomyopathy. The severity and onset of symptoms can vary widely, from neonatal onset with severe lactic acidosis and early death, to adult onset with isolated myopathy.
Diagnosis[edit | edit source]
Diagnosis of PET100-related disorders is based on clinical findings, biochemical analysis of muscle and other tissues, and molecular genetic testing. Genetic testing can confirm a diagnosis and help guide treatment and management decisions.
Treatment[edit | edit source]
There is currently no cure for mitochondrial complex IV deficiency. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy for muscle weakness, medications for cardiac and neurological symptoms, and nutritional support.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
