ATP5D
ATP5D: Unraveling the Role of a Mitochondrial Protein
Description:
ATP5D, short for ATP synthase subunit d, is a crucial protein found within the mitochondria of cells. Mitochondria serve as the energy powerhouses of cells, producing the essential molecule ATP (adenosine triphosphate) through a process called oxidative phosphorylation. ATP5D plays a pivotal role in this process by acting as a component of Complex V, the final complex in the electron transport chain.
Mechanism of Action:
ATP5D is an integral membrane protein that spans the mitochondrial inner membrane. It collaborates with other subunits of Complex V to form a proton channel. As protons flow through this channel, their movement drives the synthesis of ATP from ADP (adenosine diphosphate) and inorganic phosphate. ATP is the primary energy currency of cells, fueling numerous cellular processes.
Associated Diseases:
Mutations in the ATP5D gene have been linked to a range of mitochondrial disorders, affecting various organs and systems:
- Leigh syndrome: A neurodegenerative disorder characterized by developmental delays, seizures, and muscle weakness.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A multisystem disorder affecting the brain, muscles, and heart.
- Neuropathy, ataxia, and retinitis pigmentosa (NARP): A combination of nerve damage, movement difficulties, and vision loss.
- Other mitochondrial disorders: Including cardiomyopathy, skeletal myopathy, and gastrointestinal issues.
Did you Know ?
Mitochondrial disorders, including those associated with ATP5D mutations, affect approximately 1 in 4,000 individuals worldwide.
