Canavan Disease By Lauren Nieman

Genetic Disorders- Genetic disorders are illness’ caused by abnormalities in genes or chromosomes, especially in a condition that is present before birth. Most genetic disorders are rare and effect only one person in every several thousand or million. Some genetic disorders are passed down from parent genes but others are almost always caused by new mutations or changes to the DNA.

History of the Canavan Disease Canavan disease was first discovered in 1931 by Myrtelle Canavan. The discovery of the gene for Canavan Disease created controversy about the disease. In 1987, the Greenburg's, a family with two children affected with Canavan Disease donated tissue samples to Dr. Reuben Matalon, a researcher looking for the Canavan gene. Dr. Matalon successfully identified the gene in 1993

General information Of Canavan Disease

General information Canavan disease is also known as Canavan- Van Bogaert- Bertrand disease, aspartoacylase deficiency or aminoacylase two deficiency. Canavan Disease is an autosomal (not sex chromosome) recessive degenerative disorder that causes damage to nerve cells in the brain. One of the most degenerative cerebral diseases of infancy. Canavan Disease is in the group of genetic disorders called leukodystrophies- dysfunction of the white matter of the brain.

General information Canavan Disease is inherited through family bloodlines and is more common in the Ashkenazi Jews than in the general population. One out of every forty Ashkenazi Jewish person is a carrier of the gene Canavan Disease is the lack of enzyme, (large biological molecules responsible for metabolism) aspartoacylase, and leads to the buildup of material known as N-acetyl aspartic acid (second most connected molecule in the brain, which causes the white matter in the brain to break down.)

Loss of previously acquired motor skills symptoms Symptoms of Canavan Disease usually begin in the first year of a child’s life. Symptoms include: Loss of previously acquired motor skills Abnormal posture with flexed arms and straight legs Backflow of food material into the nose (nasal regurgitation) Feeding problems Increasing of head size Lack of head control Poor muscle tone (especially in the neck)

Poor visual tracking or blindness Symptoms (continued) Poor visual tracking or blindness Reflux (when stomachs contents leak backward from the stomach to the esophagus after eating) Seizures Severe intellectual disability Swallowing difficulties

With Canavan Disease the central nervous system breaks down. Complications With Canavan Disease the central nervous system breaks down. Patients most likely will become disabled Death often happens before eighteen months of age, though some patients live until they are teenagers or, rarely, young adults.

Normal child’s brain, compared to that of a child with Canavan Disease

There is no known cure for Canavan Disease. Treatment There is no known cure for Canavan Disease. There is also no standard course of treatment. Treatment is sympathetic and supportive, but there is an experimental treatment using Lithium Citrate. When a person has canavan disease, their N- acetylasparate are chronically elevated. The Lithium Citrate decreased levels of N-acetylasparate. When tested on humans the subject’s symptoms started to become less severe but after two weeks without the Lithium they went into withdrawal.

Treatment (continued) There are experimental trials of gene therapy. A healthy gene is cloned to take over for the defective gene that causes canavan disease. This method can improve the life of a patient without long-term effects on five years follow- up http://www.youtube.com/watch?v=pam3xyAvl1w

In research for Canavan Disease gene therapy is used. Gene therapy is the use of DNA as a pharmaceutical agent to treat disease. The most common form of gene therapy involves using DNA that encodes a functional, therapeutic gene to replace the mutated one. In research for Canavan Disease gene therapy is used. At Canavan Research Illinois there was a trial led by the worlds leading reseacher in gene therapy for Canavan Disease (Paola Leone, P.h. D. Dr. Leone)

Gene therapy (continued) None of the children who have been treated so far have experienced any side effects and are released from hospital days after surgery. Several of the children treated have experienced substantial improvements.

Bibliography http://www.youtube.com/watch?v=pam3xyAvl1w http://en.wikipedia.org/wiki/Genetic_disorder http://en.wikipedia.org/wiki/Canavan_disease#History http://en.wikipedia.org/wiki/File:Autorecessive.svg http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002553/ http://geneticsf.labanca.net/wp-content/uploads/2010/11/normal.jpeg http://ghr.nlm.nih.gov/condition/canavan-disease