Question

7) Canayan 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 leukodystrophies. 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 oligodendrocytes do not mature and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function. According to a group of investigators, Canavan disease is caused by a mutation in the gene that encodes for an enzyme called aspartoacylase, which breaks down the amino acid N-acetyl- aspartate. However, a competing laboratory published an article 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 controls for full credit. Animal models cannot be used (14 points). I

Answer 1

The genetic mutations at gene level can be determined using DNA sequence data.

Here it is assumed that the aspertoacylase mutation is the lead cause of canavan disease, which was not supported by other. For this to determine weather aspertoacylase mutation i's responsible of this disease DNA samples from set of healthy individuals should be taken as control and DNA samples from people suffering with disease are taken and amplified in PCR using gene specific primers. The sequences are again aligned and compared with data retraived from already submitted data. Finally mutations if any found commonly among individuvals reported with disease compared to normal genes associated with normal people, indicates the gene mutation in aspertoacylase causing disease trait.