Rare Mitochondrial Mutations Not As Rare As Thought?
A team of researchers in France have conducted a study of 743 patients who were suspected to suffer from respiratory chain disorder which is caused by defective mitochondria, and who were known not to carry a common mtDNA mutation. Using a series of techniques to screen the entirety of the mitochondrial DNA (mtDNA) of the patients they were able to detect any other common mutations they patients may carry as well as the rare ones and any deletions in the code. When they screened for Leigh syndrome they found that the rare mutation was carried by 41% of their patients; this is significant because they would not have known if it were for the new technologies available to them.
Mitochondrial diseases are usually very severe are also usually untreatable and affect one in 5000 children; but if they are diagnosed early on, doctors can usually prescribe a treatment which is able to mitigate secondary symptoms. In understanding that the majority of the rare diseases occur due to mutations in tRNA rather than in genes which code for proteins, scientists hope to be able to better understand the effect the mutations will have and be better able to treat them. Mitochondrial diseases range far and wide, from muscle weakness to neurological disease, respiratory and cardiac problems, this is a field of medicine which could do with some help. Also taken into consideration is genetic counselling and prenatal diagnosis for those parents wanting to have a child or who have just had a child with a mitochondrial disease. With this great influx of data, it is hoped that the field will see some good advances in the years to come. (x)