Amyotrophic Lateral Sclerosis, more commonly known as ALS is a neuromuscular degenerative disease which effects the motor neurons in the brain, and the spinal cord. Discovered in 1874 by a French scientist, ALS is a terminal illness with no known cause or cure. The pathology of the disease begins with weakness generally in an extremity, which spreads throughout the body and becomes more severe with time. First the patient is not able to write and walk, after that they lose the strength to eat and talk. Eventually it gets to a point where they are not able to breath anymore, and unfortunately, pass away. For most people death comes within two to five years of the diagnosis.
Currently there are roughly 35,000 people effected by ALS in the United States, and that number is rising. As of right we know that ten percent of ALS cases are familial, or hereditary, and ninety percent of the cases are sporadic. The disease pathologies are identical, the only known difference is that one you can pass on to your children. Since Sporadic ALS (SALS) is so erratic, and seems to follow no noticeable pattern most studies are conducted focusing on Familial ALS (FALS), in hopes that any findings will translate to both.
In studies done on FALS there has been some information found that helps shed some light on what is going on inside an ALS patients body.
There are expected to be over two million different proteins in the human body, each with their own specific set of DNA. When a Protein is being produced, the cell turns DNA into RNA, and the RNA into Amino Acids. If one letter out of the thousands in the DNA coding is wrong, then you get a different amino acid, and what is called a mutated protein.
Proteins function based on the shape that they have, and when a protein is mutated, it comes out in a different shape changing its function. This takes away a necessary function inside the cell and adds an unwanted function. These mutated genes aggregate inside the motor neurons and cause them to stop working. Like I said earlier, this spreads throughout the body until paralysis is reached, and the patients body shuts down.
Currently there are 27 known proteins that when mutated, create ALS. The first to be discovered and the most well known protein is called Superoxide Dismutase 1, or SOD1. Its original function is to get rid of free radicals which are really small, bad compounds found in our body, such as Superoxide (03-). There are 160 known different ways for SOD1 to mutate, all of which take away its original function, which is bad, and add a new unwanted function, which is bad.
This is currently a very crude look as to what ALS is. As I gain more information I will update the pages.
Currently there are roughly 35,000 people effected by ALS in the United States, and that number is rising. As of right we know that ten percent of ALS cases are familial, or hereditary, and ninety percent of the cases are sporadic. The disease pathologies are identical, the only known difference is that one you can pass on to your children. Since Sporadic ALS (SALS) is so erratic, and seems to follow no noticeable pattern most studies are conducted focusing on Familial ALS (FALS), in hopes that any findings will translate to both.
In studies done on FALS there has been some information found that helps shed some light on what is going on inside an ALS patients body.
There are expected to be over two million different proteins in the human body, each with their own specific set of DNA. When a Protein is being produced, the cell turns DNA into RNA, and the RNA into Amino Acids. If one letter out of the thousands in the DNA coding is wrong, then you get a different amino acid, and what is called a mutated protein.
Proteins function based on the shape that they have, and when a protein is mutated, it comes out in a different shape changing its function. This takes away a necessary function inside the cell and adds an unwanted function. These mutated genes aggregate inside the motor neurons and cause them to stop working. Like I said earlier, this spreads throughout the body until paralysis is reached, and the patients body shuts down.
Currently there are 27 known proteins that when mutated, create ALS. The first to be discovered and the most well known protein is called Superoxide Dismutase 1, or SOD1. Its original function is to get rid of free radicals which are really small, bad compounds found in our body, such as Superoxide (03-). There are 160 known different ways for SOD1 to mutate, all of which take away its original function, which is bad, and add a new unwanted function, which is bad.
This is currently a very crude look as to what ALS is. As I gain more information I will update the pages.
pictures were taken from www.unc.edu www.cdc.gov/als and www.pbs.org