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
