Short updates on ALS research: ALS-associated DNA variants, ridding cells of misfolded proteins, immune response network
Variant sequences of DNA within a small region of chromosome 9 have been found to be associated with sporadic ALS (ALS without a family history) in a study that compared samples from people with and without the disease living in the United Kingdom, United States, Netherlands, Ireland, Italy, France, Sweden and Belgium; and in another study that compared DNA samples from those with familial ALS (ALS with a family history) to those without the disease in Finland.
Scientists have identified a small molecule that makes it easier for cells to rid themselves of damaged or misfolded proteins through structures called proteasomes. Accumulations of misfolded proteins have been implicated in ALS.
See Enhancement of proteasome activity by a small-molecule inhibitor of USP14.
A "systems genetics" approach has allowed researchers to identify a network of genes involved in the immune response and to show that a variant in a single gene controlling this network increases susceptibility to the autoimmune disease type 1 diabetes. Unwanted immune responses have been implicated in ALS, and understanding them may help in developing treatments for this disease.
See A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.