ALS2

The ALS2 gene provides instructions for making a protein called alsin. Alsin is produced in a wide range of tissues, with highest amounts in the brain. It is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.

Alsin's function in cells is unclear. It may play a role in regulating cell membrane organization and the movement of molecules inside cells. Research findings also suggest that alsin may play a role in the development of axons and dendrites, which are specialized outgrowths from nerve cells that are essential for the transmission of nerve impulses.

amyotrophic lateral sclerosis - caused by mutations in the ALS2 gene

Two ALS2 mutations that cause type 2 amyotrophic lateral sclerosis have been identified. These mutations delete a single DNA building block (nucleotide), which alters the instructions for producing alsin. As a result, alsin is unstable and decays rapidly.

It is unclear how the loss of alsin protein causes type 2 amyotrophic lateral sclerosis. Loss of alsin may disrupt the movement of essential molecules within cells or alter the development of axons and dendrites. Researchers suggest that the long axons of motor neurons may be particularly sensitive to altered development. As a result, motor neuron function declines and eventually these nerve cells die, leading to the signs and symptoms of type 2 amyotrophic lateral sclerosis.

infantile-onset ascending hereditary spastic paralysis - caused by mutations in the ALS2 gene

Researchers have identified several ALS2 mutations that cause infantile-onset ascending hereditary spastic paralysis. These mutations change or delete one or more DNA building blocks (nucleotides), which alters the instructions for producing alsin. As a result, alsin is unstable and decays rapidly.

It is unclear how the loss of alsin protein causes infantile-onset ascending hereditary spastic paralysis. Loss of alsin may disrupt the movement of essential molecules within cells or alter the development of axons and dendrites. Researchers suggest that the long axons of motor neurons may be particularly sensitive to altered development. As a result, motor neuron function declines and eventually these nerve cells die, leading to the signs and symptoms of infantile-onset ascending hereditary spastic paralysis.

juvenile primary lateral sclerosis - caused by mutations in the ALS2 gene

Researchers have identified three mutations in the ALS2 gene that cause juvenile primary lateral sclerosis. Two of these mutations delete DNA building blocks (nucleotides), and one mutation replaces one nucleotide with an incorrect nucleotide. These mutations alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly.

It is unclear how the loss of functional alsin protein causes juvenile primary lateral sclerosis. Loss of alsin may disrupt the movement of essential molecules within cells or alter the development of axons and dendrites. Researchers suggest that the long axons of motor neurons may be particularly sensitive to altered development. As a result, motor neuron function declines and eventually these nerve cells die, leading to the signs and symptoms of juvenile primary lateral sclerosis.