Giant Axonal Neuropathy is an
extremely rare genetic disorder, which directly affects children’s central and
peripheral nervous systems. There are only 31 cases reported worldwide today,
19 living in the United States. The disorder causes children to lose balance,
movement of muscles, and the loss of sensation. Children that are born with GAN
tend to become progressively impaired and most do not survive beyond their
early twenties.
Children with the disease are found
to have swollen axons that are filled with abnormal aggregates abundant with
neurofilaments Researchers discovered the cause of this disease by looking at
mutations within the GAN (Gigaxonin) gene. This protein-coding gene is
incredibly vital to neurofilament architecture.
Researchers from the University of
North Carolina School of Medicine (UNC), such as Steven J. Gray, PhD, have
developed an experimental gene transfer treatment. The treatment approach uses
a genetically modified virus called the adeno- associated virus (AAV). The
treatment is given by a single injection with use of spinal tap, into patient’s
cerebrospinal fluid. The patient is then
monitored for two months while the treatment flows around in the CSF.
I found this article to be extremely insightful into the study of neurofilaments. Neurofilaments are a prime component to the neuronal cytoskeleton. They are composed of polypeptide chains and define the structure and shape of neurons. Without a functioning nervous system many things can go wrong in the body. This study conducted by the University of North Carolina School of Medicine, really gives hope into helping children that suffer from this devastating disease.
The article can be found at this link
A following article can be found here
This was an interesting post. Is there any special reason that you look this disorder up? I am wonder because my wife has RSD, Reflex Sympathetic Dystrophy, and wanted to do a post about that. Eventually I would like to work at a pharmaceutical company to create a drug to help here with her disorder.
ReplyDeleteMr. helmes, I was interested in the neuropathy aspect of this article. It was fascinating learning this rare condition is affected by the malfunction/mutation in the GAN gene. The coding for the gigaxonin protein is extremely necessary. Without the proper Gigaxonin function the build up of neurofilaments in the axon will prevent the transmission of signals. Without the transmission of these signals, deterioration would be inevitable. This deterioration leads to the nervous system shut down. Furthermore, I would love to read your post about RSD. RSD seems to be focused on a specific, acute, area of pain, rather in comparison to GAN.
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ReplyDeleteYes RSD does focus on areas of pain but each case is different. My wife has it all over her body but it hasn't gotten to the later stage of the disorder where her hands or feet could start to be affected by arthritis-like symptoms. Luckily she stay active and walks daily so that her symptoms are kept in better check She has friends on multiple support groups who decided to give into the disease and have been out of work since and have no hope to ever return due to either the pain or the drugs they are on; majority of RSD suffers are only given narcotic pain medication since alot of doctor don't know about RSD and there isn't much research on it since there isn't many big profile people who will claim that have it. Paula Abdul has it but she won't claim to it since it would have destroy her dancing career if she admitted to it. Even thou if she did that would have explained all her problems while she judged American Idols since the tabloids claim she was on drugs all the team (yeah probably morphine, codine or any other strong pain meds).
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