Link found between cell proteins and gene that causes ALS

A new study has furthered the available information surrounding the possible link between amyotrophic lateral sclerosis (ALS) and protein production problems within cells. According to the study, certain proteins that can build-up in cells can lead to the mutations of a gene that causes ALS.

Published in the journal 'Cell', the study details the further evidence that there is a link between the toxic build-up of proteins, and any molecules that are related to this build-up, in a number of cells, including neurons, and the mutations within a certain gene that eventually causes ALS to develop.

Scientists from St. Jude Children's Research Hospital  and the University of Colorado suggest that the VCP gene provides a vital role in the body. Evidence points to the fact that the VCP gene is important in breaking-up and removing RNA molecules and protein, which form temporary structures in cells called RNA granules. These granules are important when it comes to supporting the functions performed by RNA molecules.

ALS, and other degenerative diseases that are related to it, is caused when RNA granules are unable to form properly and are not broken-up. This causes the build-up of RNA and proteins in nerve cells. The researchers suggest that mutations in the VCP gene may help these build-up and therefore cause the disease.

"The results go a long way to explaining the process that links a variety of neurodegenerative diseases, including ALS, frontotemporal dementia and related diseases of the brain, muscle and bone known as multisystem proteinopathies," said Doctor J Paul Taylor, the study's co-corresponding author and member of the St. Jude Department of Developmental Neurobiology.

Currently there is no effective treatment for ALS and patients tend to die within five years of diagnosis. The disease's symptoms are caused by the progressive deterioration of nerve cells within the spine and brain. These nerve cells are important when it comes to all movements within the body, which includes breathing.

By understanding this possible link, it may be possible to develop a more effective form of treatment for ALS patients and so improve their quality of life and slow down the progression of the disease.