New Mitochondrial gene mutation discovered

The rare genetic disorder spastic ataxia has been the researchers’ main focus at St. George’s University in London. The cause for it and several other mitochondrial disorders may have been discovered. Neurological disorders are usually associated with mitochondrial diseases and can lead to coordination, growth, visual, speech and muscle defects. This particular study was done in an Amish family where multiple children suffered from spastic ataxia. This gene mutation that they have discovered is a new defect in the mitochondria. Furthermore, this particular mitochondrial mutation named, maturation defect of mitochondrial ribonucleic acid (RNA), has not been seen before. Mitochondria are nicknamed the “powerhouse” of the cell and are responsible for creating energy from food and oxygen. This mitochondrial RNA of the affected gene have a shorter chain of nucleotides and this incomplete chain results in the symptoms that are associated with spastic ataxia. This is not only an important discovery for those suffering from the disorder spastic ataxia but their findings are also exciting because “there are other neurodegenerative disorders that may be caused by the same mechanism.” The researches are optimistic about what their finding will lead to next but they also know “a lot more work is needed before any new treatments could be developed.”
http://www.sciencedaily.com/releases/2010/10/101022063526.htm