The Effects of Mutant Zn,Cu Superoxide Dismutase on Amyotrophic Lateral Sclerosis Patients

Abstract

Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease, which leads to muscle atrophy and death, with no known cure. ALS is the most common of the motor neuron diseases, affecting around 5 of every 100,000 people in the world today (PubMed). It has been observed that a mutation in the enzyme Zn,Cu superoxide dismutase (SOD1) is a major contributor to this disease while having multiple effects. By categorizing what certain mutation in SOD1 cause, early diagnostic techniques and possible treatments can be created. Studies have shown that mutant SOD1 causes abnormal mitochondrial dynamics, altered metabolic profiles, and changed phenotypes for microglia in neurons. The overall cause of ALS is still unknown, with only 10% of the cases diagnosed being genetic in origin (PubMed). Before a cure can be created, more of the pathways of the disease need to be studied.