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.
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.