Amyotrophic Lateral Sclerosis (ALS), popularly known as Lou Gehrig’s disease, is a devastating neurological disorder common today. This condition usually results in the progressive degeneration of nerve cells in the brain and spinal cord. These neurological parts are responsible for controlling voluntary muscle movements such as chewing, walking, and talking.
This relentless disorder entraps those affected by it in bodies that refuse to respond to their will. Globally, ALS affects an estimate of over 450,000 people. For that matter, Dr Julian Sargon-Ungar aims to discuss what causes this life-altering disease and offer insight into ongoing research in the field.
Sporadic vs Familial ALS
ALS cases can broadly be categorized into two types: sporadic ALS, which accounts for 90% to 95% of cases, and familial ALS (FALS), making up the remaining 5% to 10% of cases. Sporadic ALS occurs randomly, without any clear associated risk factors, and any family history of the disease. It can affect adults of all ages but typically appears between ages 40 to 60.
On the other hand, familial ALS is inherited. In these cases, there’s a 50% chance each offspring will inherit the gene mutation and may develop the disease. The onset of Familial ALS tends to be earlier in life, and a higher likelihood exists that these individuals might present with atypical forms of the disease.
Scientific breakthroughs over the last two decades have highlighted several genetic mutations. These are mostly associated with both sporadic and familial forms of ALS, deepening your understanding of disease mechanisms.
Mutations in genes such as C9orf72, SOD1, and TARDBP appear to be common among familial ALS patients, and in some groups with sporadic ALS. The SOD1 mutation, in particular, accounts for 20% of FALS and 2% of sporadic ALS cases.
While the clear-cut causes of sporadic ALS remain elusive, evidence proposes a multifactorial etiology, with several environmental factors alongside genetic susceptibility playing contributing roles. Research shows that individuals with a history of military service, irrespective of the war era, face a nearly 60% greater risk of developing ALS.
Also, several studies have found that smoking tobacco, particularly among women, increases the risk of ALS. Other than that, ALS clusters have also been reported in association with cyanobacterial blooms in lakes and non-migratory aquatic birds, suggesting a possible environmental risk factor.
And finally, some scientific studies suggest exposure to lead and other heavy metals or pesticides may increase the risk of ALS. This may be true, although none of these substances have definitively been linked to the development of the disease.
Other Disease Mechanisms
And finally, in addition to genetic mutations and environmental factors, research suggests that other processes might play a role in the development of ALS. This might include the body’s immune response attacking its cells (autoimmunity), protein mishandling in nerve cells, and oxidative stress.
Take Good Care To Prevent ALS
Despite the headway made in understanding ALS’s genetic underpinnings, we are still far from a comprehensive understanding of what triggers this devastating disease. Researchers continue their efforts to dig deeper into the multifactorial causes of ALS.
These experts like Dr Julian Sargon-Ungar have been investigating the interplay between genetics and environmental factors in ALS. Learning more about what causes ALS will undeniably fuel the search for effective treatment and eventual prevention, offering hope in a battle against a relentless enemy.