Researchers at Northwestern University in Evanston, IL have announced a breakthrough in understanding amyotrophic lateral sclerosis, ALS, sometimes referred to as Lou Gehrig’s disease. The fatal neurodegenerative disease is caused by a mutated protein, ubiquilin2. The job of this protein is to carry away damaged proteins as part of the recycling system necessary to maintain the process of using the proteins that are the building blocks in the cells. When this process fails to occur the cells become damaged and abnormal, and are unable to repair themselves. These abnormal proteins build up in the brain or spinal cord creating a tangled mess causing the neurons to be destroyed. This causes muscle weakness that leads to paralysis, and the inability to swallow and breathe. According to Teepu Dissique, professor of neurology and clinical neuroscience at Northwestern University, and the article’s lead author, this explains how every form of the disease works and gives researchers a target for drug therapies. The article will appear in the journal Nature. This disease affects about 30,000 Americans.
This newly discovered mechanism explains all three types of ALS: familial or hereditary ALS, sporadic ALS which is not hereditary, and a form known as ALS/dementia, a type that targets the cognitive brain function. Additionally, a mutation in the ubiquilin2 protein gene was found that links familial with ALS/dementia. ALS is a motor neuron disease where the neurons that control the use of voluntary muscles are destroyed. The motor neurons that communicate between the brain and spinal cord, and voluntary muscles lose their ability to function when brain can no longer send the necessary messages to the spinal cord that should than be sent to the various muscles. The muscles waste away from lack of use while the brains ability to think and learn remains intact. However, with ALS/dementia, a rare form, its victims are robbed of the ability to understand language, form judgments, and organize thoughts. It is believed the frontal lobe is affected in addition to the muscle weakness. Survival after symptoms begin is usually under 5 years.
Besides the hope this breakthrough gives ALS patients, it is hoped this will lead to an understanding of the issues in other dementia’s particularly Alzheimer’s, frontotemporal dementia, and Parkinson’s disease. Frontotemporal dementia is also known as Pick’s disease and occurs when a abnormally high amount or an unusually type of a protein called tau is present in the brain causing behavior changes, difficulty talking, and trouble thinking.