Back To CoursePathophysiology Textbook
20 chapters | 274 lessons
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All sorts of dirt and other gunk can accumulate in so many different places, like the lint in a dryer or the dirt in your car. Things that are as innocent as lint or as nasty as dirt can also accumulate within the cells that make up your body. We'll discuss a few famous and also important examples of what these substances are, why they may accumulate, and what that may do to your body.
Lysosomal storage disorders, which are disorders that involve the malfunction of a cell's lysosome, can lead to certain accumulations within a cell. The cell's lysosome is like the stomach of a cell. If its digestive enzymes cannot properly function to break down certain products, such as fat or sugar-containing molecules, then the molecules simply sit in the cell's lysosome and accumulate. The stuff that accumulates is basically junk, garbage, and serves no real purpose other than to cause cells that contain these accumulations to malfunction.
I like to imagine that this garbage is like your own garbage you take out once a week. If the city's garbage collectors, like a cell's lysosomal enzymes, don't clear that garbage away, it will first do little harm. But over the course of a long time the garbage will pile up, spill over onto the street, stop traffic, smell, cause you to get sick, and overall disrupt entire streets, cities, and counties. That's what this garbage does to your body's cells, like its nerve cells. If these cells are disrupted as a result of garbage accumulating within them, disease can set in.
By the way, although lysosomal storage disorders are rare inherited conditions, two famous diseases associated with this group of disorders you may heard of include Tay-Sachs disease and Mannosidosis.
Unfortunately, there are plenty more things that can accumulate in cells that may be of no use and only cause harm and devastation. One of them is sugar. Yep, I know you think I'm crazy. How can sugar be bad if it tastes so good!?
The problem lies in a particular type of complex sugar, known as glycogen. It is important in a group of genetic problems known as glycogen storage disease. This is a group of disorders caused by the accumulation of glycogen within body cells, such as liver and muscle cells.
So, with that in mind, you'd think that having plenty of this stuff is good! Not so fast. Just like eating too much sugar can cause cavities or even cause you to put on too many pounds, both of which are unhealthy, it's just as unhealthy for a cell to have over-accumulation of glycogen due to a glycogen storage disease.
The problem lies in the fact that proteins responsible for glycogen synthesis, maintenance, breakdown, and so forth have been implicated in causing abnormal quantities of glycogen or the formation of glycogen that is of abnormal quality. This leads a cell to malfunction, which can in turn lead the body to malfunction. These malfunctions can lead a person to develop everything from tumors to kidney disease as a result.
While the previous two groups of disorders may have seemed a bit boring, there's an interesting one coming right up. At least I think it's pretty neat. This one involves the accumulation of pigments! That's right, pigments! It's kind of like if you were a painter of sorts and had a bunch of colors build up on your hands and clothing. It's sort of the same deal here, but within cells.
One of these colors in your body, when stained for viewing under the microscope, is a fat- (lipo-) based pigment that is called lipofuscin. More specifically, lipofuscin is a lipopigment, or golden-brown to reddish-brown lipid-phospholipid protein remnant of the improper breakdown of cellular membranes. Accumulations of these residues can play a part in organ and tissue dysfunction, such as those of the eyes and central nervous system.
Besides the accumulation of sugars and pigments, virtually anything else can accumulate within a cell or tissue and cause problems. Lipids, or fats, can accumulate in inherited disorders classed together as lipid storage diseases, which may be part of the lysosomal storage disease group of problems. Again, as with lysosomal and glycogen storage diseases, enzymes responsible for the proper breakdown of fats are either missing or seem to malfunction, leading to improper accumulation of lipids and cellular malfunction thereafter.
Like carbohydrates, lipids, and pigments, proteins are not immune from accumulation either. One famous example of improper and potentially deadly accumulation of proteins is known as amyloidosis. This is a group of disorders characterized by the deposition of insoluble proteins in tissues and organs, resulting in their malfunction.
Further still, even things like minerals can over-accumulate in your body and lead to disease. One well-known over-accumulation of iron in body tissues and organs, leading to their malfunction and death, is known as hemochromatosis.
Hopefully, you now have a clear appreciation for the wide variety of things that can accumulate within your body, many times as a result of missing, abnormal, or inefficient enzymes that are supposed to properly break them down.
These accumulations involve lysosomal storage disorders, which are disorders that involve the malfunction of a cell's lysosome. These disorders can lead to certain accumulations within a cell, as well as glycogen storage disease, which is a group of disorders caused by the accumulation of glycogen within body cells, such as liver and muscle cells.
Furthermore, pigments can accumulate within your body as well. One of these pigments is called lipofuscin. More specifically, lipofuscin is a lipopigment, or golden-brown to reddish-brown lipid-phospholipid protein remnant of the improper breakdown of cellular membranes.
Besides pigment, nutrients such as important minerals, like iron, can accumulate in your body as well. Hemochromatosis, or the over-accumulation of iron in body tissues and organs, leading to their malfunction and death, is one notable example.
And don't forget amyloidosis, a group of disorders characterized by the deposition of insoluble proteins in tissues and organs, resulting in their malfunction, in addition to plenty of lipid storage diseases that cause your body problems as well.
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Back To CoursePathophysiology Textbook
20 chapters | 274 lessons