Genetic Disease Research Paper
By Lexi Kasowski
Canavan disease is a Leukodystrophy, which is one of several neurological disorders where the brain deteriorates because of a defective inherited gene. Canavan disease is more often with Ashkenazi Jews and Saudi Arabians, even though all ethnic groups can get it. Canavan prevents the correct transmission of nerve signals.
The Symptoms of Canavan are a fast, rapid increasing head circumference, inability to control your head, reduced vision, and abnormal muscle tone (stiff or floppiness). When a child has Canavan, it seems to just get worse over time. They cannot crawl, walk, sit, or talk. After a while seizures can occur, becoming paralyzed, developmentally slow, blindness, deafness, and trouble swallowing. These symptoms start happening when the infant is 3-9 months old. Most children do not make it past 10. There is no cure for Canavan disease, but there are treatments to help it.
A mutation of a gene is the reason for Canavan. Production of the enzyme asapartoaclyase (ASPA) lets N-acetyaspartic acid (NAA) into the brain. Buildup of NAA damages fat (myelin) that surrounds nerve fibers in the brain and spinal cord (myelin). A protective coating is formed that ensures that nerve impulses are transported properly from all body parts. For a child to contract Canavan Disease, the bad gene has to be inherited from both parents.
It’s very simple to get screened for Canavan Disease. Just a blood test could screen for Canavan. A parent of child could be tested and screened from Canavan. When both parents carry the disease there’s a 25% chance with every pregnancy to conceive a baby with Canavan disease. You want to be screened before starting a family, and the results take up to 2 weeks to come back. The disease can be screened while the couple has already conceived a baby. If it is found that the baby was conceived with Canavan Disease, the choices are to terminate the child, or to go on...
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