Twin cities facing genetic disaster: Fumarase deficiency
Last Updated on August 5, 2017 by Joseph Gut – thasso
The problem was first discovered in 1990, by Dr, Theodore Tarby who specialised in rare childhood diseases. This was after a woman in the community brought her 10-year-old son to him. Dr. Tarby recognised the boy’s unusual facial features, such as his low-set ears, widely-spaced eyes, small jaw and a prominent forehead. In addition to this, the boy was severely physically and mentally disabled.
An urine sample was taken and came back showing that the boy had a fumarase deficiency. Children suffering from the condition are often missing parts of their brain and can’t either sit or stand without support.Their IQ is usually around 25, and their language skills are minimal.
At the time, Dr. Tarby believed had all the reasons to believe that there were only 13 cases of fumarase deficiency in the world, and that he happened to just encounter one of those unbelievable rare cases. As it turned out, this was not actually the case in that the 10-year-old’s sister, whom the parents believed was suffering from cerebral palsy also had the rare condition. Together with colleagues, Dr Tarby had soon diagnosed eight new cases within the same community, in children ranging from toddlers to 12-year-olds. Most of the patients couldn’t walk or sit up, while they all shared the same facial characteristics.
The likelihood of having the disease within this small community was over one million times the global average, researchers found. And the reason for this was the gradual inbreeding that had been and still is happening over generations in populations that exercise polygamy. With polygamy, the overall genetic diversity tends to notably decrease because a few men are having a disproportionate impact on the next generation. Random genetic mutations become more important and their frequency may notably increase within such populations as compared to the general population. It’s now estimated that thousands of people in the 7,700-person community are carriers of the recessive yet defect gene.