Amyotrophic lateral sclerosis (ALS) is a degenerative disease. The neurons responsible for movement begin to die and muscle control is progressively lost, leading to a fatal outcome.
In 2016, a Spanish biochemist named Ãscar Fernández Capetillo attended a conference about the origins of life on Earth. The speaker was Jack W. Szostak, a winner of the Nobel Prize for Physiology or Medicine, who was attempting to discover the recipe for generating life in the laboratory, from a basis of chemical ingredients already present on the planet during the Earthâs infancy. After his talk, both men got together for coffee. Szostak does not remember the content of their conversation but for Fernández Capetillo it is imprinted on his memory. Five years later, that brief chat has culminated in the discovery of a mechanism that sheds light on one of the most devastating diseases known to humans: amyotrophic lateral sclerosis (ALS, also known as Lou Gehrigâs disease).
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IMAGE: Mouse motor neurons, generated from mouse embryonic stem cells exposed (right) or not (left) to ALS-associated peptides (right). As observed in patients, these peptides are toxic and cause neuronal death.. view more
Credit: CNIO
In Amyotrophic Lateral Sclerosis (ALS), the progressive death of neurons that control body movement leads to paralysis of muscles in the limbs and gradually of the whole body, which ultimately makes it impossible to breathe. ALS is currently untreatable, and its cause is unknown.
It is known, however, that in 10% of affected individuals there is a strong genetic component, which causes the disease to occur in several members of a single family. In about half of these cases of familial ALS, the origin lies in a gene called C9ORF72. But why do mutations in this gene kill motor neurons?
In Amyotrophic Lateral Sclerosis (ALS), the progressive death of neurons that control body movement leads to paralysis of muscles in the limbs and gradually of the whole body, which ultimately makes it impossible to breathe. ALS is currently untreatable, and its cause is unknown.