BIOL 102 Lecture Notes - Lecture 28: Zygosity, Hemoglobin, Hominidae
Document Summary
Tay-sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside gm2 build up in tissues and nerve cells in the brain. Infants with tay-sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. There are so many diseases associated with lysosome malfunction that they even have a group name. Gaucher"s and pompe"s disease are also examples of illnesses caused by the malfunction of lysosome enzymes; their rightful role is the bottom of cell hierarchy, breaking down cell waste and managing storage molecules like glycogen. Tay sachs occurs when just one specific letter goes wrong in the dna chain. That one letter means the body cannot properly create the enzyme.
