STARD3NL
Stard3nl Gene: An Essential Player in Mitochondrial Function and Human Health
Description
The Stard3nl gene, located on chromosome 3, provides instructions for making a protein essential for mitochondrial function. Mitochondria are the energy powerhouses of our cells, responsible for producing the energy necessary for cellular processes. The STARD3NL protein plays a critical role in regulating the movement of cholesterol into the mitochondria, a process necessary for mitochondrial biogenesis and oxidative phosphorylation, the main energy-producing pathway in cells.
Associated Diseases
Mutations in the Stard3nl gene have been linked to several human diseases, including:
- Mitochondrial disorders: Mitochondrial disorders are a group of inherited conditions that affect mitochondria's ability to function properly. Stard3nl mutations can lead to mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and Leber hereditary optic neuropathy (LHON), conditions characterized by impaired energy production, neurological symptoms, and vision loss.
- Autism spectrum disorder (ASD): Studies have found associations between Stard3nl mutations and an increased risk of ASD, suggesting a role for mitochondrial dysfunction in the development of neurodevelopmental disorders.
- Neurodegenerative diseases: Stard3nl mutations have also been implicated in neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease, where mitochondrial dysfunction is believed to contribute to neuronal damage and cell death.
Did you Know ?
Approximately 1 in every 5000 individuals carries a mutation in the Stard3nl gene. While some mutations are more common in certain populations, such as the A386P mutation in LHON, mutations can occur in any individual.
