OPA3 : outer mitochondrial membrane lipid metabolism regulator OPA3

Description

The OPA1 gene provides instructions for making a protein called optic atrophy 1. This protein plays a crucial role in the fusion of mitochondria, the powerhouses of our cells. Mitochondrial fusion is essential for maintaining the integrity of the mitochondrial network, ensuring proper energy production, and preventing cell death. Mutations in the OPA1 gene can disrupt this process, leading to a variety of disorders.

Associated Diseases

• Dominant optic atrophy (DOA)
• Autosomal dominant optic atrophy
• Kjer type optic atrophy
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Leigh syndrome
• Progressive external ophthalmoplegia (PEO)
• Neurodegeneration with brain iron accumulation (NBIA)

Did you know?

OPA1 mutations can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene from one parent is sufficient to cause the disorder. However, some individuals with OPA1 mutations may not experience symptoms, highlighting the complex nature of this gene‘s function.