The etymology of the term lysosome takes us to the English lysosome , in turn derived from a Greek word formed by lýsis (which can be translated as "solution" ) and sôma (that is, "body" ).
Lysosomes are cell organelles formed by a membranous vesicle . In this vesicle there are enzymes that are involved in the intracellular digestion process.
Spherical in shape, lysosomes house the molecules responsible for the degradation of intracellular material of both internal and external origin. Although they appear in all animal cells, these structures present different characteristics depending on each case.
Proteases , glucosidases , nucleases and lipases are the main enzymes that can be found in a lysosome. They are able to digest what enters the cell through phagocytosis, like a bacteria , and also allow the recycling of other cellular organelles. This second characteristic enables the continuous replenishment of organelles thanks to autophagy.
Lysosomal disease , on the other hand, is a disorder that arises from a problem in the lysosomes, especially due to a problem with the enzymes. The cause of this group of diseases may be the uncontrolled release of these substances in the cytoplasm (the liquid found inside the cells) or the dysfunction of one of the enzymes.
When enzymes are released into the cytoplasm without control, a process known as cell lysis takes place; It is the rupture of the membrane, both of cells and bacteria, with the consequent expulsion of the internal material.
Gout , for example, arises from excessive production of uric acid. This leads to the accumulation of urate crystals in the joints, which the cells phagocytose. For this reason, the crystals accumulate in the lysosomes until the organelle ruptures, releasing enzymes into the cytosol.
We can also talk about leukodystrophies , certain diseases that are in the lysosomal group. They are genetic and are characterized by poor functioning of lysosomal enzymes. Since the lysosome must degrade and recycle nutrients , if it does not function normally it accumulates them and this gives rise to different disorders. Two examples of leukodystrophies are metachromatic and Krabbe disease .
Lysosomal storage diseases (also called lysosomal storage or hoarding diseases ) are a group of inherited types, which exhibit their earliest symptoms during childhood or adolescence. Among its consequences we can highlight the shortening of the patient's life expectancy and mental disability to different degrees.
The causes are the malfunction of the enzymes in the lysosomes, which leads to cell death of substances that cannot be metabolized, and a mutation of the genes that are responsible for encoding the enzymes.
Although this group of diseases is not very common, if we take them all into account in a single statistic, we can say that they affect an average of five thousand to seven thousand people, which translates into 250 cases for a community. of a million individuals.
Depending on the biochemical defect and the substance that the enzymes incorrectly accumulate in the lysosomes, it is possible to establish the following classification of diseases:
* sphingolipidosis : Gaucher disease, Fabry disease, Niemann-Pick disease, Farber disease, etc.;
* mucopolysaccharidosis: syndrome de Hurler, de Scheie, de Sanfilippo, de Hunter, etcétera;
* due to glycogen deposition : Pompe or Glycogenosis type II;
* glycoproteinosis : sialidosis, mannosidosis, fucosidosis, Schindler's disease, aspartiglucosaminuria, etc.