Kaitlyn Bryan

Mrs. Sanders
AP Biology
13 January 2015
Gene Therapy and Canavan Disease
Gene therapy is considered a last option due to all of the potential risks. It is
only used when there is no other cure for a disease. Future technology should make
gene therapy less risky and more usable. Canavan disease is a disease caused by a
mutation in a specific gene. Canavan disease is not curable so gene therapy is used
because there is no other known cure. This disease and therapy are disgusted
throughout the essay.
Canavan disease is a disorder present at birth. It is inherited from the
parents, yet the parents rarely ever have noticeable signs of the disease. It
inherited in an autosomal recessive pattern, but the parents dont show signs. This
disease is also known as leukodystophies, which is characterized by degeneration of
myelin. This is the fatty covering that insulates nerve fibers. This disease is caused
by mutations of the ASAP gene. The ASAP gene provides instructions for making an
enzyme called aspartoacylase. This enzyme normally breaks down a compound
called N-acetyl-L-aspartic acid (NAA). This is predominantly found in nerve cells in
the brain. Nerve fibers without this protective covering malfunctions and die,
damaging the brain and causing the serious signs and symptoms of Canavan
disease. Signs and symptoms begin in early infancy. The child can appear to be
normal during the first few months. Within three to five months the infants will

begin to have trouble with development (hypotonia), unusually large head size
(macroephaly), abnormal posture, and intellectual disabilities. Feeding and
swallowing difficulties, seizures, and sleep disturbances may also develop. Life
expectancy varies. Most only live until childhood, although some survive into
adolescence or beyond. Fewer than 1,000 people in the U.S. suffer from Canavan
disease.
The exact definition of gene therapy is the transplantation of normal genes
into cells in place of missing of defective ones in order to correct genetic disorders.
This is an experimental technique that uses genes to treat or prevent disease. With
future technologies patients will be able to use their own cells instead of drugs or
surgery. There are three approaches to gene therapy: replacing a mutated gene that
causes disease with a healthy copy of the gene; inactivating or knocking out a
mutated gene that is functioning improperly; introducing a new gene into the body
to help fight a disease. The technique still remains very risky today. The therapy is
currently only used for diseases that have no other cures.
Canavan disease is very rare in the United States and around the world so
therefore the cure is very hard to find so gene therapy is used. Canavan disease is
still under study and is hopefully going to help gene therapy technology improve in
the future. Hopefully the previous paragraphs have made gene therapy and
Canavan disease a little more clear. More information can be found on Google by
searching gene therapy and Canavan disease.

Work Cited

http://ghr.nlm.nih.gov/handbook/therapy/genetherapy
http://ghr.nlm.nih.gov/condition/canavan-disease