FAM78A
FAM78A: An Intriguing Gene with Diverse Roles in Health and Disease
Description
FAM78A (family with sequence similarity 78, member A) is a gene located on the human chromosome 14q24.3. It encodes a protein of the same name, which plays a crucial role in various cellular processes. FAM78A is primarily involved in regulating mitochondrial dynamics, including mitochondrial fusion and fission, shaping mitochondrial morphology, and maintaining mitochondrial quality control.
Associated Diseases
Dysfunction or mutations in FAM78A have been linked to an array of human diseases, including:
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A severe multisystem disorder characterized by recurrent strokes, seizures, and muscle weakness.
- Leber‘s hereditary optic neuropathy (LHON): A maternally inherited condition that leads to progressive vision loss, particularly in males.
- Neurodegenerative diseases: FAM78A has been implicated in the development of Alzheimer‘s disease and Parkinson‘s disease.
- Cardiomyopathy: Mutations in FAM78A can increase the risk of heart disease.
- Diabetes: FAM78A may play a role in insulin resistance and glucose metabolism.
Did you Know ?
In a study of individuals with MELAS, researchers found that approximately 60% of patients had mutations in the FAM78A gene.
