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How A4V Mutation of SOD1 Contributes to ALS

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Susana Liu

on 15 December 2014

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Transcript of How A4V Mutation of SOD1 Contributes to ALS

How A4V Mutation of
Superoxide Dismutase 1
Contributes to
Amyotrophic Lateral Sclerosis
A4V Mutation:
A4V mutation is the alanine to valine mutation at codon 4 of SOD1
The A4V mutant belong to the wt-like mutants
Patients with A4V mutations exhibit varying ages of onset of the disease and shorter life expectancies
there are 150+ SOD1 mutations
different mutations are more common in different countries/continents
of the 90% of SOD1 caused cases diagnosed, ~50% are caused by the A4V mutation
Introduction to SOD1:
An enzyme that catalyzes the dismutation of the toxic superoxide (O2−) radical into either ordinary molecular oxygen (O2) or hydrogen peroxide (H2O2)

SOD1 is responsible for approximately 90% of all diagnosed cases of ALS
In Superoxide Dismutase 1, mutations are caused by misfolding and a gathering of the protein
The most frequently found variation of SOD1 found in North America is the:
A4V Mutation
It was recently estimated that the A4V mutation occurred 540 generations (~12,000 years) ago.
• The A4V mutation arose in the Asian ancestors of Native Americans, who reached the Americas through the Bering Strait
•located on chromosome 21
How A4V Mutation of
Superoxide Dismutase 1 Contributes to
Amyotrophic Lateral Sclerosis
Riley & Susana
Mutations of SOD1:
How SOD1 Causes ALS
• Neurodegenerative disease (ALS)
• Mutated cells affect nerve cells in the brain and spinal cord
ALS is also developed through SOD1 by actions in nearby cells called astrocytes
The gain of a new toxic function in the SOD1 protein causes ALS to develop
SOD1 mutations can disrupt the ability of astrocytes to maintain motor neurons
• However, the exact mechanism remains unknown
Full transcript