ALS
Amyotrophic Lateral Sclerosis (ALS), also known as Motor Neuron Disease (MND), Mal Charcot, or Lou Gehrig's Disease, is a life threatening neurodegenerative disease. ALS causes the progressive loss of nervous system control of voluntary muscle systems by breaking down of motor neurons in the nerve cells in the brain and spinal core. It affects one in every 100,000 people, more men than woman, and symptoms don't usually develop until sufferers are in their fifties. The symptoms of ALS include muscle weakness, decrease in muscle coordination and mass, loss of tissue due to a lack of nervous stimulation, possible paralysis, muscle cramps, voice impairment like hoarseness, slow or abnormal speech, difficulty swallowing and breathing, urinary urgency, leg ankle and feet swelling. Additionally, the nerves controlling muscles in wh
Johns Hopkins researchers have previously shown that many ALS patients have little or no EAAT2 in certain areas of the brain and spinal cord, creating an excess of glutamate that kills the nerves that control muscles. ALS is a terrible debilitating disease that we are only beginning to understand, and hopefully with new genetic technology we can find a cure. Researchers at Columbia-Presbyterian Medical Center worked with two strains of transgenic mice. In some cases it is known that people inherit ALS, but often there are sporadic or non-inherited cases too. One of them carried mutations that produced familial ALS, and another carried the human proto-oncogene Bcl-2, which is known to protect against apoptosis or cell death. EAAT2, normally deactivates and recycles glutamate, a chemical certain nerve cells use to send messages to each other. The newly identified mutations involve a protein called EAAT2 where some of the useless introns that are supposed to be cut out of the DNA, are kept, while exons are discarded. If these mutations really are specific to ALS, then tests can be developed to detect them, which could help make the diagnosis to begin treatment much earlier and faster in the course of the disease. The third kind is Guamanian, because there are so many cases in Guam. The first drug in the world available for ALS since the disease was discovered in 1869, was Rilutec. Recently they have identified genetic mutations that appear to cause more than half or these cases. This produces defective RNA that leads to a defective EAAT2 protein or no protein at all. This disease has a gradual onset that progressively worsens until death, which usually occurs within three to five years.
Common topics in this essay:
Gehrig's Disease,
Guam Nearly,
Johns Hopkins,
ALS Bcl-2,
Medical Center,
Rilutec Pre-clinical,
amyotrophic lateral sclerosis,
brain spinal,
amyotrophic lateral,
nerve cells,
cell death,
gene therapy,
als bcl-2,
lateral sclerosis,
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