In some cases, amyotrophic lateral sclerosis can be caused by a mutation in the gene encoding the protein optineurin, researchers from Japan report.
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive disease of the spinal cord and motor neuron, manifested by muscle atrophy, limb paresis, gradual deterioration in mobility up to complete paralysis of the respiratory muscles and death.
Hideshi Kawakami and colleagues from Hiroshima University studied the genetic material of ALS patients and discovered three mutations in the gene encoding optineurin – a protein involved in the development of the hereditary form of glaucoma.
Scientists have also shown that two of these mutations affect the levels of a protein complex called NF-kappa B, important in nerve cell signaling. According to the authors of the study, drugs that block the action of NF-kappa B could prove effective in the treatment of ALS. (PAP)