Investigators at Northwestern University School of Medicine have identified several gene mutations that may underlie most, if not all, cases of ALS.
New ALS Gene Found
New research published this week in the journal Nature further confirms a defect in protein turnover in neurons of the spinal cord and brain as a common pathological link in all forms of ALS and ALS/dementia.
Investigators at Northwestern University School of Medicine have identified several mutations in the gene UBIQUILIN-2 (UBQLN2) on the X-chromosome as the cause of disease in several families with ALS. Examination of post-mortem ALS spinal cord and brain tissues from sporadic ALS as well familial ALS caused by UBQLN2 and other genes such as SOD-1 revealed that ubiquilin-2 is present in the characteristic pathological protein inclusions in neurons in all the cases they analyzed. These results add to the accumulating body of evidence suggesting dysfunction of protein turnover may underlie most, if not all, cases of ALS.
It is still too early to know how exactly ubiquilin-2 is specially involved in ALS. However, future research will help elucidate it's specific role in disease and offer new specific targets for therapy development.
Read the full Nature Article.