Fumarase is an enzyme involved in the Krebs Cycle that catalyzes the hydration (addition of H2O across a double bond) of Fumarate to L-malate (the natural optical isomer of a protein as apposed to the d isomer) Ribbon diagram of the catalytically perfect enzyme TIM. An enzyme is a protein that catalyzes, or speeds up, a chemical reaction. ... The citric acid cycle (also known as the tricarboxylic acid cycle, the TCA cycle, or the Krebs cycle) is a series of chemical reactions of central importance in all living cells that utilize oxygen as part of cellular respiration. ... In chemistry and biology, catalysis (in Greek meaning to annul) is the acceleration of the rate of a chemical reaction by means of a substance, called a catalyst, that is itself unchanged chemically by the overall reaction. ... In chemistry, hydration is the condition of being combined with water. ... Water has the chemical formula H2O, meaning that one molecule of water is composed of two hydrogen atoms and one oxygen atom. ... Covalent bonding is a form of chemical bonding characterized by the sharing of one or more pairs of electrons between atoms, in order to produce a mutual attraction, which holds the resultant molecule together. ... A fumarate is a salt or ester of fumaric acid. ... Optical isomerism is a form of isomerism (specifically stereoisomerism) whereby the different 2 isomers are the same in every way except being non-superimposable mirror images* of each other. ...

Fumarase Deficiency

In humans, Fumarase Deficiency is an enzyme irregularity that causes severe mental retardation, unusual facial features, brain malformation, and epileptic seizures. 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. Mental retardation (also called mental handicap and, as defined by the UK Mental Health Act 1983, mental impairment and severe mental impairment) is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as... This article is about the medical condition. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...

Fumarase Deficiency is extremely rare. Until a few years ago scientists knew of only 13 cases worldwide. However, recently 20 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 Mormon Church called the Fundamentalist Church of Jesus Christ of Latter Day Saints. Due to the practices of polygamy and of inbreeding, the Fumarase Deficiency gene has become very common in the communities. It is believed that one of the founders of the communities, Joseph Smith Jessop, or his wife carried the gene and has now passed it on to his decendents. Colorado City is a town located in Mohave County, Arizona. ... Hildale is a city located in Washington County, Utah. ... The temple of The Church of Jesus Christ of Latter-day Saints located in Salt Lake City, Utah is the largest attraction in the citys Temple Square. ... The Fundamentalist Church of Jesus Christ of Latter Day Saints is a denomination of Mormon fundamentalists within the Latter Day Saint movement, and may be Americas largest polygamous group. ... The term polygamy (literally many marriages in late Greek) is used in related ways in social anthropology and sociobiology. ... Inbreeding is breeding between close relatives. ...

Reaction

• Image: Fumarate to L-Malate

External Links

• Krebs Cycle, gives some details on the Krebs cycle in which fumerase is involved

• [1] is a Deseret Morning News article from February 9, 2006, about Fumarase Deficiency in Hildale, Utah, and Colorado City, Arizona.

• [2] is a Phoenix New Times article from December 29, 2005 about Fumarase Deficiency in Hildale, Utah, and Colorado City, Arizona.