A new study identifies a previously unrecognized mutation that causes an inherited form of amyotrophic lateral sclerosis . The research, published by Cell Press in the December 9 edition of the journal Neuron, may include blemishes of a mobile linked to the degradation of unwanted proteins in the underlying pathology of ALS, and provides a new view of the incurable and fatal neurodegenerative disease.‘The identification of genes underlying rare familial forms of ALS has had a significant impact on our understanding of the molecular mechanisms underlying typical ALS,’ explains senior study author Bryan J. Traynor Neurogenetics Laboratory at the National Institutes of Health, Bethesda, Maryland. ‘Each new gene implicated in the etiology of ALS provides fundamental insights into the pathogenesis of motor neuron degeneration, and to facilitate the modeling of disease and the design and testing of targeted therapies, where there is great interest in identifying new genetic mutations. ‘
An experiment was made with genetically modified mice. These mice missing a gene involved in the production of gliotransmitters, chemical signals that originate from glial cells, brain cells that support neurons. Without these gliotransmitters, designed mice could not produce adenosine, the researchers believe they can cause cognitive effects associated with sleep deprivation.
Amyotrophic lateral sclerosis, also known as, is a devastating disease that destroys neurons in the brain and spinal cord that control voluntary movement. There is no cure for ALS, which is characterized by a progressive paralysis that often leads to death from respiratory failure within three to five years after diagnosis.
It is estimated that about 5 percent of ALS cases are hereditary and genetic mutations associated with these familial cases of ALS were identified.