Essay On Tay John

Essay On Tay John-37
As its name implies, the HEXA gene is essential to the production of the Hex-A enzyme, which is further comprised of alpha and beta subunits.Located on the long arm of chromosome 15, the HEXA gene contains genetic information that encodes for a particular protein involved in the formation of the enzyme’s alpha subunit. O’Brien discovered that Tay-Sach’s disease was in fact linked to diminished Hex-A activity and that this event was connected to a disturbed alpha subunit, which could be identified with an enzyme assay.By the age of six months, however, development noticeably slows, with seizures and decreased mental function typically occurring by age two.

As its name implies, the HEXA gene is essential to the production of the Hex-A enzyme, which is further comprised of alpha and beta subunits.Located on the long arm of chromosome 15, the HEXA gene contains genetic information that encodes for a particular protein involved in the formation of the enzyme’s alpha subunit. O’Brien discovered that Tay-Sach’s disease was in fact linked to diminished Hex-A activity and that this event was connected to a disturbed alpha subunit, which could be identified with an enzyme assay.

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In 1881 British ophthalmologist Warren Tay made an unusual observation.

He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child’s physical and mental retardation.

In 1960, Robert Terry and Saul Korey identified membranous bodies within the neurons of Tay-Sachs patients that were filled with gangliosides.

The membranous bodies possessed qualities similar to lysosomes, the cellular structures responsible for degrading toxic substances.

They tend to occur between adolescence and the mid-30’s and typically do not include vision or hearing loss.

Symptoms of LOTS vary and can include loss of mental function, speech difficulties, muscle weakness or cramping, issues with gait, or sometimes mental illness.Life expectancy is also variable and sometimes even unaffected.These symptoms result from the accumulation of a fatty substance in the brain due to the absence or suppression of an important enzyme known as hexosaminidase A, or Hex-A, that is a result of a mutation on both copies of the hexosaminidase A (alpha polypeptide), or HEXA, gene.Sachs also noted the higher occurrence of the disease in Jews of eastern and central European descent as well as the typical pattern of the disease, including early blindness, severe retardation, and death in early childhood.Tay-Sachs disease can manifest itself in the classic infantile form or as juvenile or late-onset Tay Sach’s (LOTS) disease, both of which are less common and less severe.The hexosaminidase A enzyme forms a complex within the lysosomes of cells that acts to break down a fatty substance known as GM2 ganglioside.This ganglioside was first characterized in the late 1930s and early 1940s by Ernst Klenk and his colleagues as an acid-containing glycosphingolipid.This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, in recognition of Tay, the lysosomal storage disorder known as Tay-Sachs Disease.Tay shares the disease’s title with New York neurologist Bernard Sachs, who described the cellular changes present in the disease as well as its potential for heritability, shortly after Tay’s observation.The inability to suppress ganglioside levels results in toxic accumulation of GM2 in the nerve cells of the brain and spinal cord, ultimately leading to their destruction and to the symptoms associated with the disease.This is why Tay-Sachs Disease is also known as GM2 gangliosidosis type 1.

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