A study highlights a set of genes that may be behind the death of brain cells, a hallmark of amyotrophic lateral sclerosis.
- A team of researchers has identified how a set of genes may be behind the death of brain cells, a hallmark of ALS, providing insight into the root causes of the disease.
- In people with ALS, disruptions in neurons can “impair their ability to build, transport and break down proteins,” which can lead to “a widespread loss of neurons.”
- The researchers also revealed how glial cells, whose function is to keep brain cells healthy, are affected by ALS: they can become dysfunctional and damage neurons.
Amyotrophic lateral sclerosis (ALS), better known as Lou Gehrig’s disease, is a neurodegenerative disease that attacks the neurons in the brain and spinal cord responsible for muscle control, leading to muscle wasting and progressive paralysis until death, which usually occurs within three to five years.
An international team of researchers has just shown that a specific set of genes could be at the origin of the death of brain cells, a hallmark of ALS. Their work, published in the journal Nature Agingprovide insight into the root causes of the disease and pave the way for new ways to slow or stop its progression.
A group of genes associated with increased risk of ALS
Scientists analyzed the genetic profile of tens of thousands of neurons from postmortem brain tissue of people with ALS, comparing them with those of healthy donors, according to a communicated. They observed “higher levels of genes associated with increased risk of ALS and frontotemporal dementia” (DFT, a related disease), in particular “in the cells of Betz”a specific type of neuron that allows certain muscles to contract.
However, in people with ALS, “This was linked to disruptions in other neurons, which hampered their ability to build, transport and break down proteins.” Previous research has notably shown that toxic accumulation of the protein TDP-43 is a defining feature of ALS and some cases of FTD. “Therefore, higher levels of ALS risk genes in a distinct cell type could trigger a chain reaction leading to widespread neuron loss.”
The role of glial cells, dysfunctional in ALS
The researchers also revealed how glial cells, whose function is to keep brain cells healthy, are affected by ALS: they can become dysfunctional and damage neurons, often accelerating their demise. By analyzing genetic data from two types of glial cells, the researchers identified genes linked to cellular stress and inflammation, which could provide an explanation.
Further work is needed to determine “whether glial cell dysfunction is a consequence or a cause of neuron degeneration in ALS”conclude the authors of the study.