The Lysosomal Storage Disease

Lysosomes are a membrane-bound organelle found in many animal cells. They are spherical vesicles containing hydrolases that break down many biomolecules. The pH of the lysosome in the range of 4.5 to 5.0 is optimal for the enzyme involved in the hydrolysis. Lysosomes perform waste treatment functions by digesting unused or unused materials from the cytoplasm inside and outside the cell. Among them, substances from outside the cell are absorbed by endocytosis, while substances from inside the cell are digested by autophagy. Lysosomes need to break down unwanted substances into raw materials, which are then used by cells to synthesize new substances. In this process, lysosomes function is realized by decompose these unwanted substances by enzymatic reactions. A lysosomal disorder is usually triggered when a particular enzyme is present in too small amounts or is completely absent. When this happens, the substance will accumulate in the cells. In other words, when the lysosome does not function properly, excess product for decomposition and recycling will remain in the cells. Lysosomes are known to contain more than 60 different enzymes and have more than 50 membrane proteins. The synthesis of these enzymes is controlled by nuclear genes. When these genes are mutated, they will result in more than 30 different human genetic diseases, collectively referred to as lysosomal storage diseases. They are caused by the inability to decompose unwanted substances, which in turn leads to the accumulation of specific substrates. These genetic defects are closely linked to several neurodegenerative diseases, cancer, cardiovascular disease and aging-related diseases. Type of Lysosomal Storage Disease A genetic defect involved in lysosomes, called a lysosomal storage disease (LSD) mutation, is a congenital metabolic error caused by a dysfunction of an enzyme. The main reason is the lack of acid hydrolase. Other conditions are due to defects in the lysosomal membrane protein that result in the inability of the enzyme to transport. The initial effect of this disease is the accumulation of specific macromolecules or monomeric compounds within the endosome-autophagy-lysosomal system. This leads to abnormal signaling pathways, calcium homeostasis, lipid biosynthesis and degradation, and intracellular trafficking, ultimately leading to pathogenic diseases. The organs most affected are the brain, internal organs, bones and cartilage.