UQCRH
UQCRH Gene: Unlocking the Mysteries of Mitochondrial Function
Description
The UQCRH gene, located on chromosome 1, provides instructions for the production of a protein known as ubiquinone oxidoreductase core subunit H. This protein is an essential component of the mitochondrial respiratory chain, a complex system that generates energy for the cell.
Mitochondria are organelles found in all eukaryotic cells, responsible for supplying the energy needed for cellular processes such as metabolism, growth, and reproduction. The respiratory chain within mitochondria contains five protein complexes, each with specific roles in oxidative phosphorylation, the process of generating ATP (adenosine triphosphate), the cell's energy currency.
The UQCRH protein forms part of Complex III, the third complex in the respiratory chain. Complex III transfers electrons from ubiquinone to cytochrome c, a vital step in the electron transport process and ultimately, ATP production.
Associated Diseases
Mutations in the UQCRH gene can lead to impaired Complex III function, resulting in a range of mitochondrial disorders that affect various organs and systems in the body. These disorders can manifest in a wide spectrum of symptoms, depending on the severity and location of the mutation.
- Leigh syndrome: A severe neurodegenerative disorder that affects infants, characterized by developmental regression, movement difficulties, and seizures.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A multisystem disorder that typically affects children and young adults, causing muscle weakness, seizures, stroke-like episodes, and impaired cognitive function.
- Mitochondrial myopathy: A condition that primarily affects muscle tissue, leading to weakness, fatigue, and exercise intolerance.
- Isolated Complex III deficiency: A specific mitochondrial disorder characterized by isolated dysfunction of Complex III, resulting in a range of symptoms including muscle weakness, fatigue, and encephalopathy (brain dysfunction).
Did you Know ?
Mutations in the UQCRH gene are responsible for approximately 10-15% of isolated Complex III deficiency cases. This makes it one of the most common genetic causes of this mitochondrial disorder.
