Stories

There are currently only two therapies available for the treatment of ALS, Riluzole and Edaravone. Part of the reason for the lack of efficacious treatments is due to the complex nature of the disease, with many factors hypothesised to impact its progression. Included amongst these factors are dysfunctional mitochondria, the part of the cell responsible for energy generation, and a dysfunctional endoplasmic reticulum, the part of the cell responsible for the synthesis of proteins. Researchers now believe that a novel treatment that targets these areas could provide a viable therapy for ALS.

Frontotemporal dementia (FTD) is a disease that causes degeneration of the  areas of the brain that control cognitive, auditory and visual function. Amyotrophic lateral sclerosis (ALS) and FTD exist on the same spectrum, with many overlapping disease-causing mechanisms.

One of the major causes of ALS/MND is a mutation in a gene known as C9ORF72, which is present in around 10% of patients, and is toxic to the cells of people with the mutation. In a healthy individual the C9ORF72 gene would ordinarily provide a template for the cell to engineer a protein that carries out several roles in a cell. Mutation in the C9ORF72 gene can cause toxicity to a cell in two ways.

Amyotrophic lateral sclerosis (ALS) is a devastating disease which leads to death of motor neurons (MNs). There are many genetic causes leading to ALS, one of which is represented by mutations in an important protein called TAR DNA binding protein (TDP-43). In a healthy individual, the TDP-43 protein can be found in a compartment of MNs called the nucleus, which acts as a command centre.