Canavan disease is a gene-linked neurological disorder, in which the brain degenerates into spongy tissues riddled...

Canavan disease is a gene-linked neurological disorder, in which the brain degenerates into spongy tissues riddled with microscopic fluid-filled spaces. Canavan disease has been classified as a group of genetic disorders termed leukodyatrophies. In the normal population, oligodendrocytes carry out an essential developmental task by producing myelin sheets, which constitute the fatty coverings that act as insulators around nerve fibers in the brain and provide nutritional support for nerve cells. In patients with Canavan disease, many oligoderndrocytes do not mature and instead dir, leaving nerve cell projections known as axons vulnerable amd unable to properly function.

According to a group of inverstigators, Canavan disease is casued by a mutation in thr gene that encodes for an enzyme called aspartoacylase, which breaks down the amino acid N-acetyl-aspartate. However, a competing laboratory published an articlr claiming that aspartoacylase mutation is not relevant for the pathogenesis and progression of Canavan disease.

Design an experimental plan to determine who is right. Include all the contrils for full credit. Animal models cannot be used.

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Expert Solution

Answer: Two different sets of samples have to be studied in the experiment. In one case, the patient with the Canavan disease has to be tested and in the other case a normal person. The blood samples from both persons have to be collected. The DNA would be isolated. The DNA has to amplify in a polymerase chain reaction with thr gene-specific primer. Then the DNA fingerprints have to be analyses using the Southern blotting technique. The specific thr DNA has to be isolated and sequenced. The DNA sequence of the thr gene of both diseased and the normal person has to be compared. If there is sequence differentiation, then it can be concluded that mutation in the thr gene has caused the Canavan disease. The hypothesis is that the person with Canavan disease will have the mutated thr gene (that is a sequence that is different from the sequence of the DNA of any normal person or that reported in the human genome database).

gladiator answered 1 year ago

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