What is ALS?
Most people know amyotrophic laterals sclerosis (ALS) as Lou Gehrig’s disease after the professional baseball player who had to retire due to the illness. It was also the subject of a social media craze called the ‘ice bucket challenge” that aimed to raise awareness and funds for research. ALS is a progressive disorder that affects the motor neurons in the brain and spinal cord. The death of these neurons manifests as a gradual decline in voluntary movement that leads to paralysis and death.
Individuals typically live 2-5 years after the first symptoms present themselves. The Center for Disease and Control estimates that roughly 10,000 to 15,000 people in the US are affected. Like Alzheimer’s, ALS is an age-related disorder with most cases occurring in individuals between the ages of 55 and 75.
Progression of Symptoms
-Early Stage
- Trouble grasping small items
- Changes in vocal pitch
- Falling
- Muscle cramps/twitches
- Excess fatigue
-Middle Stage
- Breathing becomes more difficult
- Muscles tighten and become weak
- Trouble walking and balancing
- Eating and speech ability reduced
-Late Stage
- Muscles become paralyzed
- Speech is not possible
- Breathing requires a ventilator
Two forms of ALS can occur, sporadic, and familial. The sporadic can impact anyone. This form accounts for up 90 to 95 percent of all cases. The familial form of ALS is the result of inheriting genetic mutations and is responsible for 5 to 10 percent of all cases.
The Latest Science
The cause of sporadic ALS is not well known. Scientists are working to understand the pathology to address the vital need of developing treatments and a cure. Recent research has implicated prolonged oxidative stress as a possible mechanism. It can lead to protein aggregation and therefore defective function of the proteins involved. It can also impact critical transport systems between the nucleus and cytoplasm of the cell by RNA binding proteins.
Oxidative stress can also cause mitochondrial damage by altering mitochondrial proteins. Through an unknown mechanism, these altered proteins can inflict damage on the mitochondria. These organelles are vital for the health of cells and damage can increase susceptibility of neuron death.
The conditions of oxidative stress and protein aggregation may also lead to improper protein metabolism. Protein dysmetabolism can negatively impact a big range of processes crucial for the survival and functioning of neurons.
It is worthy to note that familial cases of ALS are the result of mutations to genes that code for proteins involved in the pathways above.
Although we may be years away from a cure for ALS, promising advances are being made in understanding the molecular drivers of the disease. This will one day help develop effective therapies to increase the quality of life for those affected.
You Can Help!
I encourage you to visit the websites of organizations listed below to learn more and help fight ALS.
