Biology of AGU
How AGU Affects the Body
AGU affects children both cognitively and physically. Aspects of the disease may include:
Science Behind AGU
The underlying cause of AGU is found in an individual’s chromosomal structure. In humans, each cell contains 23 pairs of chromosomes for a total of 46: 23 from their mother and 23 from their father. The first 22 pairs of chromosomes are called Any chromosome in a cell that is not an X or Y sex chromosome. The average person has 22 pairs of autosomes (44 autosomes in total) in each cell that define the genetic make-up, or DNA, of the being. These chromosomes store thousands of genes and they are inherited from the beings' parents. In addition to the 22 pairs of autosomes (44 total), beings also have one pair (2 total) sex chromosomes (X and Y in a male, and X and X in a female)., and they look the same in both males and females. The 23rd pair are called sex chromosomes, which are different between males and females. Females have two copies of the X chromosomes (XX), and males have one X and one Y chromosome (XY). A A change in DNA that causes disease. in a gene on one of the first 22 non-sex chromosomes can lead to an Inheritance characteristic where a gene is located on a numbered, non-sex chromosome. These are found on one of the 22 pairs of (44 total) autosomal chromosomes in a human body where DNA is stored. This is one of several ways that a trait, disorder or disease can be passed down through families. These chromosomes are not the sex (X or Y) chromosomes. disorder.
Autosomal recessive describes one of several ways that a disorder or disease is passed down through families. An autosomal recessive disorder occurs when a child inherits two copies of an abnormal gene, one from the mother and one from the father. The biological parents oftentimes have no symptoms of disease because the one functional gene is able to compensate for the defective gene. This means that two healthy people can produce a child or multiple children with the same genetic disorder.
AGU is inherited in an autosomal recessive pattern, meaning both copies of the AGA gene A variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.” (one from each parent) must be present in the person diagnosed with AGU.
Healthy AGA Gene
People with AGU have two defective copies of the AGA gene. The AGA gene provides the body with instructions for building the AGA A protein responsible for speeding the rate of chemical reaction in the cell of the living organism. Enzymes support a wide range of functions in an organism, as they spark chemical reactions. Enzymes work with, or interact with, substrates (the underlying surface or substance). When reacted together, the enzyme and substrate result in a new product or molecule that then separates from the original enzyme and goes on to create new reactions in the cell., aspartylglucosaminidase, which is important in breaking down aspartylglucosamine. When the AGA enzyme is built correctly, aspartylglucosamine is broken down in the Specialized vesicles within cells that digest large molecules, breaking down excess waste products of the cell with the help of enzymes. Lysosomes may also be used to destroy invading viruses and bacteria. and waste is recycled or disposed of properly resulting in normal cellular function.
When there are two defective copies of the AGA gene, the body creates a defective AGA enzyme that cannot perform an essential function of clearing toxic waste from the lysosomes and ultimately leads to cell death. Over time, this accumulated cell death in people with AGU leads to progressive damage in the brain and other organs.
Additional information on the AGA gene can be found here.
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- Arvio, M., & Mononen, I. (2016). Aspartylglycosaminuria: a review. Orphanet Journal of Rare Diseases, 11(162). Retrieved June 5, 2019, from link.