Tay-Sachs Genetic Disease - Essay Example

Testing for carrier or affected individuals with Tay-Sachs disease; blood screening for hexosaminidase-A (Hex-A) mutation in a suspected individual that either has a family history or is of Ashkenazi Jewish descent is used to identify carriers. A blood test is performed antenatal using chronic villus sampling and amniocentesis or after birth.
4. Organelle dysfunction underlying this disease; lysosomes are the main organelles associated with Tay-Sachs disease
5. Function of lysosomes; they produce the enzyme Hexosaminidase-A (Hex-A) that prevents the buildup of fatty materials called GM2 ganglioside in the brain and nerves of the cell. furthers averts malfunctioning of nerves and brain cells (Americo, Filho, & Shapiro, 2010).
6. Role of Hexosaminidase-A enzyme; this enzyme is responsible for abasement of GM2 ganglioside and many other biological molecules that have terminal N-acetyl hexosamine in both the brain cells and nerve cells. Deficiency of enzyme hexosaminidase A causes Tay-Sachs disease due to increased buildup of toxic GM2 ganglioside a fatty substance that destroys brain cells and nerves. This results in motor difficulties and other signs and symptoms.
7. Diagnosis of Tay-Sachs disease; a blood test is analyzed for enzyme assay or biochemical examination that reveals the levels of hexosaminidase- A in an individual. Affected individuals have less -hexosaminidase A blood and other cells than non-carriers.
8. Management; Tay-Sachs disease has no cure; only management is to relieve symptoms. Prevent airway and lung problems; relieve dysphagia and medication for fits, muscle stiffness, and eye problems (Chamoles, Blanco, Gaggioli, & Casentini, 2002).