UBE3A Essays

mutations. The UBE3A mutation is hereditary, which accounts for multiple AS births within one family. This was an important discovery and ultimately paved the way for the delineation of several mechanisms that caused AS, all by disruption of a gene located on chromosome 15. It was learned that the syndrome can be caused by two copies of the paternal chromosome 15 and that a regulatory region can be also disrupted to the syndrome. The chromosome deletion was identified, the AS gene, UBE3A, was

A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder. While reading this paper, you will become aware of the causes, characteristics, diagnoses, assessments and academics of Angelman Syndrome. By the end of the paper you will be able to understand how this disorder affects children and educators

15(q11-q13) but a on a different specific region. According to Adams (2008), there are at least four known mechanisms that results in Angelman syndrome and these include chromosome deletion, paternal uniparental disomy (UPD), ubiquitin-protein ligase E3A (UBE3A) mutation, and imprinting center

common genetic abnormalities. Study leader Mark Zylka, associate professor of cell biology and physiology, and his team explain that in normal brain development, the UBE3A gene can be turned on or off via the attachment of a phosphate molecule, which acts as a regulatory switch. However, the researchers found that mutations in UBE3A destroy the regulatory switch - which they identified as protein kinase A (PKA) - meaning the gene cannot be turned off, causing it to become hyperactive. This hyperactivity

(Science Journal Cell) mutations in 15q chromosome region is one of the reasons people can have autism (cite). In neuro-typical brains gene UBE3A can be turned off and on by the regulatory switch, protein kinase A (PKA), when it needs to be, but in brains affected by ASD, mutations cause the gene to be turned on continuously making it hyperactive. When UBE3A is hyperactive, which is caused by the destruction of PKA, it leads to Dup15q related autism (Whitman). This is one of the most common genetic