Scientists have discovered the mechanism of Lou Gehrig's disease suffered by famous physicist Stephen Hawking.
The scientific name of the disease is amyotrophic lateral sclerosis, also known as Charcot's disease.
The study was led by researchers from the Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute of Texas Children's Hospital.
It was found that mutant ubiquitin protein stops regulating the functioning of the lysosomes – the cellular components responsible for metabolic waste processing – according to the press release from MedicalXpress.
A common characteristic of this progressive and fatal neuromuscular condition is the imbalance between the synthesis and the degradation of the proteins in the cells. When this balance is disturbed, excess waste builds up in the cells and develops the disease.
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The researchers performed experiments with fruit flies as model organisms that did not have a functional version of the gene encoding ubiquitin. These mutants showed signs of neurodegeneration related to age, including the deterioration of nerve cell activity, the death of these cells and the accumulation of lysosomal damage.
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Amyotrophic lateral sclerosis is an incurable neurodegenerative disease that affects the nerve cells of the motor cortex and motor neurons. The result is paralysis and muscular atrophy. Patients suffer from respiratory tract infection or respiratory muscle insufficiency.