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Tay-Sachs Syndrome

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Some of the general symptoms of the disease can be characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large
Tay-Sachs Disease2 amount in different regions, but the majority resides in the pyriform cortex, hippocampus (CA3 field, subiculum), amygdala, hypothalamus (paraventricular supraoptic, ventromedial and arcuate nuclei, and mammillary body), and the somatosensory cortex (layer V). Most symptoms of the disease often display the first signs of the disease at
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It is a condition that has a complete deficiency of the hexosaminidase-A (HEXA) enzyme. There are over 120 mutations of the HEXA gene that cause the disease, because the mutations reduce or eliminate activity of the beta-hexosaminidae-A enzyme. The HEXA enzyme is essential for the process of hydrolysis of GM2 ganglioside to take place. The hydrolytic HEXA enzyme, in a healthy individual, plays a large part in the process of breaking down glycolipids in the lysosomes of the cell. With the aid of other enzymes in the cell, the HEXA enzyme is responsible for the breakdown of specific fatty acid derivatives called gangliosides. For individuals with Tay-Sachs disease that lack the HEXA enzyme, the fatty substance of the GM2 ganglioside begins to accumulate in the…show more content…
There are multiple treatment options including medication, respiratory care, feeding tubes and physical therapy. Some medications are available and can help with seizures. Both respiratory care and feeding tubes help to avoid infections of the lungs. Breathing problems and mucus build up are common symptoms of Tay Sachs. Physical therapy is very
Tay-Sachs Disease3 effective at keeping movement within the joints possible and helps to relieve stiffness of the patients (“Tay-Sachs disease”, 2016). There are a few experimental treatments developing. The first is Tay-Sachs Gene Therapy, this treatment includes introducing genes into diseased cells to try and correcting the mutations such as lysosomal defects (Cachon-Gonzlez, et al., "226. Effective Gene Therapy in an Authentic Mouse Model of Tay-Sachs Related Diseases", 2006). Cross correction mechanism is the proposed mechanism of action.
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