UQCR10
The uqcr10 Gene: Unraveling Its Role in Energy, Health, and Longevity
Description
The uqcr10 gene, also known as the Ubiquinone Cytochrome c Reductase Core Protein 10, plays a crucial role in the mitochondrial electron transport chain. This chain is responsible for generating the energy required for various cellular processes, including muscle contraction, brain function, and metabolism.
The uqcr10 gene encodes a protein subunit of Complex III, one of the four protein complexes that make up the mitochondrial electron transport chain. Complex III facilitates the transfer of electrons from ubiquinone to cytochrome c, a process essential for ATP production, the body's primary energy currency.
Associated Diseases
Mutations in the uqcr10 gene have been linked to several mitochondrial disorders, primarily affecting the nervous system and skeletal muscle. These disorders can manifest as:
- Leigh syndrome: A severe neurological disorder in infants characterized by developmental delays, seizures, and muscle weakness.
- MERRF syndrome: Myoclonic Epilepsy with Ragged-Red Fibers is a condition causing seizures, muscle weakness, and exercise intolerance.
- MIDD syndrome: Mitochondrial Complex III Deficiency Disorder predominantly affects the brain, leading to cognitive impairment, seizures, and developmental delays.
Did you Know ?
Research has shown that mutations in the uqcr10 gene are responsible for approximately 15% of Leigh syndrome cases, making it one of the most common genetic causes of this devastating disorder.
