beta - hexosamidase a is the type of protein that is affected in cells of individuals with tay-sachs.
beta - hexosamidase a is the type of protein that is affected in cells of individuals with tay-sachs.
what type of protein is affected in cells of individuals with tay-sachs?
beta - hexosamidase a
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in patients with a clinical suspicion for tay–sachs disease, with any age of onset, the initial testing involves an enzyme assay to measure the activity of hexosaminidase in serum, fibroblasts, or leukocytes. total hexosaminidase enzyme activity is decreased in individuals with tay–sachs as is the percentage of hexosaminidase a. after confirmation of decreased enzyme activity in an individual, confirmation by molecular analysis can be pursued. all patients with infantile onset tay–sachs disease have a "cherry red" macula in the retina, easily observable by a physician using an ophthalmoscope. this red spot is a retinal area that appears red because of gangliosides in the surrounding retinal ganglion cells. the choroidal circulation is showing through "red" in this foveal region where all retinal ganglion cells are pushed aside to increase visual acuity. thus, this cherry-red spot is the only normal part of the retina; it shows up in contrast to the rest of the retina. microscopic analysis of the retinal neurons shows they are distended from excess ganglioside storage. unlike other lysosomal storage diseases (e.g., gaucher disease, niemann–pick disease, and sandhoff disease), hepatosplenomegaly (liver and spleen enlargement) is not seen in tay–sachs.
tay–sachs disease