Cell Pathology Research Assignment By Lydia Ruiz Lysosome

Cell Pathology Research Assignment By Lydia Ruiz

Lysosome Structure • Located in the cytoplasm of an animal cell • Usually near vesicles or food vacuoles for fusion • A membranous sac containing hydrolytic enzymes • Digestive compartments of a cell

Function • Lysosomes digest food particles and recycle the cell's own material • Digest food particles through phagocytosis • Recycle material through autophagy

Why is it important? • Lysosome is needed for recycling and digesting • Buildup of undigested material can lead to deterioration of the cell • Deterioration of cells and undigested material buildup causes organs in a human to function ineffectively • Ultimately affects mental or physical state to point of death in a human • Without lysosomes, the cell or organism can die

Danon Disease • A lysosome storage disease that is a rare form of cardiomyopathy • • Cardiomyopathy is muscle disorder where the heart muscle is weakened Caused by a genetic defect in the LAMP 2 gene found in lysosomes

How It Occurs • Mutation in the LAMP 2 gene can cause minimal or no production of LAMP-2 protein • It is unclear what the LAMP-2 protein does, but without it, accumulation of autophagic vacuoles may occur • This accumulation possibly leads to breakdown of muscle cells

• Breakdown of muscle cells (glycogen storage disease) • Causes weakening of heart muscle and skeletal muscles • Signs and symptoms start in childhood/adolescence for males and adolescence for females • Leads to heart failure and premature death

Effects on Cell • Mutation of gene causes less effective of no production of LAMP-2 protein • Absence of this protein can impair transporting cellular material into lysosome and can cause accumulation of autophagic vacuoles • This accumulation possibly leads to breakdown of muscle cells (cells die off)

Effects on Organism • Muscle cells break down causing muscle weakness and intellectual disability (ID • • Heart muscle weakness (cardiomyopathy), skeletal muscle weakness, and disabilities in intellectual functioning Causes premature death

References • http: //rarediseases. org/rare-diseases/danon-disease/ • http: //aaidd. org/intellectual-disability/definition#. Vje. Deno 8 Kr. U • http: //www. ncbi. nlm. nih. gov/books/NBK 9953/ • http: //emedicine. medscape. com/article/952782 -overview • https: //www. ntsad. org/index. php/lysosmal-storage-diseases • http: //ghr. nlm. nih. gov/condition/danon-disease • http: //hyperphysics. phyastr. gsu. edu/hbase/biology/lysosome. html