TTC19

TTC19 is a gene that encodes a protein in humans. This protein is a component of the mitochondrial respiratory chain complex III (CIII), which plays a crucial role in the process of cellular respiration and energy production. Mutations in the TTC19 gene can lead to a variety of medical conditions, most notably mitochondrial complex III deficiency, nuclear type 2.

Function

The TTC19 gene provides instructions for making a protein that is found in mitochondria, the energy-producing centers within cells. This protein is a part of a group of proteins that form the mitochondrial respiratory chain complex III. This complex is essential for the process of oxidative phosphorylation, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source.

Clinical significance

Mutations in the TTC19 gene can cause mitochondrial complex III deficiency, nuclear type 2. This is a severe disorder that affects many parts of the body, including the brain, heart, liver, and muscles. Symptoms can include neurodegeneration, cardiomyopathy, lactic acidosis, and early death. The disorder is inherited in an autosomal recessive manner.

Diagnosis

Diagnosis of TTC19-related disorders is based on clinical evaluation, detailed patient history, and specialized laboratory testing. Molecular genetic testing can confirm a diagnosis and can be useful for carrier testing and prenatal diagnosis in families with a known mutation.

Treatment

There is currently no cure for disorders caused by mutations in the TTC19 gene. Treatment is symptomatic and supportive, and may include management of lactic acidosis, physical therapy for muscle weakness, and other interventions to help manage symptoms and improve quality of life.

See also

• Mitochondrial disease
• Genetic disorder
• Metabolic disorder

References

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