Cause of Spinal Muscular Atrophy - Case Study Example

Recently, there have been many scientific topics circulating in the media. They range from talks concerning diseases such as HIV/AIDS, malaria, and flu among others, but one of the most fascinating is the new cause of Spinal Muscular Atrophy. Spinal Muscular Atrophy refers to an incurable illness caused by a genetic defect in the SMN1 gene (Science Daily 1). This is the gene that codes survival motor neurons (SMN). Survival motor neuron is the protein that supports the motor neurons, as well as the spinal cord.

The University of Carolina scientists have recently discovered that the previously proposed cause of Spinal Muscular Atrophy is incorrect. Earlier, researchers linked a defect known as survival motor neuron to fatal Spinal Muscular Atrophy. This, however, according to the University of Carolina is incorrect. The university scientists think that a separate role of the survival motor neuron is likely the cause of Spinal Muscular Atrophy (Science Daily 1). Spinal Muscular Atrophy is characterized by muscle wasting (atrophy) and weakness that results from the recurring loss of the motor neurons in the spinal cord.

The illness occurs because of a partial loss of the function in the survival motor neuron gene that loads up splicing machinery with proteins. These proteins are necessary for cutting and pasting the cell’s genetic information together.