Fumarase deficiency
From Wikipedia, the free encyclopedia
Fumarase deficiency is an enzyme irregularity that causes severe mental retardation, unusual facial features, brain malformation, and epileptic seizures due to an abnormally low amount of fumarase in cells. The condition is congenital and is the result of receiving two defective recessive genes on the first chromosome that influence the functioning of the Krebs Cycle.
[edit] Prevalence in Mormon communities
Fumarase deficiency is extremely rare. Until a few years ago scientists knew of only thirteen cases worldwide. However, recently twenty additional cases have been documented in the border towns of Colorado City, Arizona, and Hildale, Utah. These communities were settled in the 1930s by a breakaway sect of The Church of Jesus Christ of Latter-day Saints called the Fundamentalist Church of Jesus Christ of Latter Day Saints.
The fumarase deficiency gene has become very common in these communities, due to the practice of inbreeding. It is believed that Joseph Smith Jessop, one of the founders of the communities, or his wife carried the gene and passed it on to their descendants.
The populations of Colorado City and Hildale are examples of the founder effect.
[edit] External links
- Desert Morning News article from February 9, 2006, about Fumarase Deficiency in Hildale, Utah, and Colorado City, Arizona.
- Phoenix New Times article from December 29, 2005, about Fumarase Deficiency in Hildale, Utah, and Colorado City, Arizona.
