MFN2
mitofusin 2
Normal Function
Health Conditions Related to Genetic Changes
Charcot-Marie-Tooth disease
Researchers have identified more than 100 MFN2 gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 2A. Charcot-Marie-Tooth disease damages the peripheral nerves, which can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.
Almost all of the MFN2 gene mutations that cause Charcot-Marie-Tooth disease change single protein building blocks (amino acids) in mitofusin 2. These changes alter a critical region in mitofusin 2, and the protein cannot function properly. A few mutations create a premature stop signal in the instructions for making mitofusin 2. As a result, no protein is produced, or an abnormally small protein is made.
Several MFN2 gene mutations cause a variant of type 2A Charcot-Marie-Tooth disease that is characterized by particularly severe symptoms that begin before age 10 and include impaired vision. (This variant is also called hereditary motor and sensory neuropathy VI.) Vision loss is caused by the breakdown of the nerves that carry information from the eyes to the brain (optic atrophy).
It is unclear how MFN2 gene mutations lead to the nerve problems characteristic of type 2A Charcot-Marie-Tooth disease. Researchers suggest that mitochondria cannot fuse properly or move normally within the cell without functional mitofusin 2, which may disrupt the cell's energy supply. Nerve cells may be particularly sensitive to an interrupted supply of energy.
More About This Health ConditionRelated Conditions
Charcot-Marie-Tooth disease
Health Conditions Related to Genetic Changes
Researchers have identified more than 100 MFN2 gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 2A. Charcot-Marie-Tooth disease damages the peripheral nerves, which can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.
Almost all of the MFN2 gene mutations that cause Charcot-Marie-Tooth disease change single protein building blocks (amino acids) in mitofusin 2. These changes alter a critical region in mitofusin 2, and the protein cannot function properly. A few mutations create a premature stop signal in the instructions for making mitofusin 2. As a result, no protein is produced, or an abnormally small protein is made.
Several MFN2 gene mutations cause a variant of type 2A Charcot-Marie-Tooth disease that is characterized by particularly severe symptoms that begin before age 10 and include impaired vision. (This variant is also called hereditary motor and sensory neuropathy VI.) Vision loss is caused by the breakdown of the nerves that carry information from the eyes to the brain (optic atrophy).
It is unclear how MFN2 gene mutations lead to the nerve problems characteristic of type 2A Charcot-Marie-Tooth disease. Researchers suggest that mitochondria cannot fuse properly or move normally within the cell without functional mitofusin 2, which may disrupt the cell's energy supply. Nerve cells may be particularly sensitive to an interrupted supply of energy.