Scientists identify genes linked to brain cell loss in ALS

Firing Neurons – 3D rendered image of Neuron cellular network on black background. Conceptual medical illustration. Health care concept. Hologram SEM (TEM) view. Light signals from neurons.

(NewsNation) — Researchers have identified a set of genes that may cause neuron death in amyotrophic lateral sclerosis, commonly known as ALS, providing new insights into the disease's root causes and potential therapeutic targets.

The small study, funded by the National Institutes of Health and published in Nature Aging, analyzed the genetic profiles of thousands of neurons from postmortem brain tissue from ALS patients and healthy donors.

Scientists have discovered higher levels of risk genes for ALS and frontotemporal dementia (FTD), particularly in Betz cells, a type of motor neuron. These genes are among the most commonly associated with ALS/FTD.

In ALS patients, the presence of these genes was linked to disruptions in other neurons, affecting their ability to build, transport and break down proteins. This may be linked to the toxic accumulation of the TDP-43 protein, characteristic of ALS and some cases of FTD.

The study also looked at glial cells, which normally support neurons but can become dysfunctional in ALS. Genetic analysis revealed genes related to cellular stress and inflammation in these cells, although further research is needed to determine whether glial dysfunction is a cause or consequence of neuron degeneration.

ALS is a progressive neurological disorder that attacks motor neurons in the brain and spinal cord, leading to muscle weakness, paralysis and eventually death. Most cases are sporadic and occur in people without a family history or obvious risk factors.