Essay On Tay John

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.The goal of such testing is to prevent the conception or birth of at-risk babies, with termination being a commonly chosen solution.

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Individuals with the juvenile form tend to develop symptoms similar to the classic infantile form between ages two and ten with death almost always occurring by age fifteen.

In contrast, individuals with LOTS experience symptoms that are less severe than both the class infantile and juvenile forms.

Additionally, some of the first reports of Tay-Sachs were characterized by observations of cells swollen with lipid-filled cytoplasm in the postmortem brains of affected children.

Tay-Sachs is an autosomal recessive disorder, meaning both parents must be carriers for the disease in order for one or more of their children to be affected.

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.Additional symptoms of the disease include poor feeding, retarded development and regression, overactive reflexes (hyperreflexia), lethargy, opisthotonos (severe rigidity of the body and arching of the back), the cherry-red spot on the retina, seizures, blindness, deafness, and spasticity.In this form of the disease, death typically occurs before age five.A carrier for Tay-Sachs disease possesses one copy of the mutated HEXA gene but is phenotypically normal.If both parents are carriers, they have a one in four chance of producing a child who is homozygous for the trait, receiving both of the mutated HEXA genes, with any given pregnancy.By the age of six months, however, development noticeably slows, with seizures and decreased mental function typically occurring by age two.A pattern of regression follows, in which the child loses the ability to crawl, sit, turn over, or reach out and becomes paralyzed, blind, cognitively impaired, and non-responsive.As of 2010, primary research initiatives include gene therapy, the development of ganglioside inhibitors, chaperone therapy, cord blood transplant, and enzyme replacement therapy. Though no current cures exist for those born with Tay-Sachs disease, progress in the search is promising. 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.


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