Diseases caused by malfunction of cell organelles

Tay-Sachs Disease and Lysosomes

Lysosomes are important cell organelles that break down the waste materials inside the cells which can be see as the stomach of the cell but what if there is some malfunction in lysosomes, what will happen to the cell? One disease that related to the malfunction of the lysosomes is the Tay-Sachs disease, what it is is basically the molecules that suppose to be broken down accumulate instead because of the deficiency in one of the lysosomal enzymes. The symptoms of the disease normally showed after several months after birth, they begin to appear as ganglioside accumulate higher and higher inside the nerve cells and will make the infants become irritable, listless and may have seizures. Blindness, deafness and paralysis follow. And sadly, affected children usually die by the age of 5. All the treatments for the disease are still considered experimental and the disease is still incurable.(Organelles & Diseases Related.)


Michael was a pleasant, happy infant who seemed to be developing normally until about six months of age. Able to roll over and sit for a few seconds, suddenly he seemed to lose those abilities. Soon, he no longer turned and smiled at his mother’s voice, as he had before, and he did not seem as interested in his mobile as he once was. (Disease at the Organelle Level.) One malfunction of the lysosomes turns a happy and innocent baby into a emotionless and sick patient. So lysosome is definitely not a good choice for Organelle in Chief, we don’t surely want a happy baby to die so soon after its birth just because the malfunction of the lysosomes.

Adrenoleukodystrophy (ALD) and Peroxisomes

Peroxisomes are cell organelles that are very similar to lysosomes, both of them has digestive enzymes to break down the toxic materials inside the cells but the difference are that lysosomes have enzymes that work in poor- oxygen level and low pH but peroxisomes have enzymes that require oxygen. They have different ways to break down stuff. But what will happen if the peroxisomes have some malfunctions, will it cause damage to the body? The answer is yes.


The malfunction of the peroxisomes will cause a disease called Adrenoleukodystrophy(ALD). It is a disease which caused by the accumulation of very-long chain fatty acids in tissues throughout the body. The accumulation happened because the The result of this is that the person will show abnormal withdrawal or aggression, poor memory, and poor school performance in children and progressive stiffness, weakness or paralysis of the lower limbs, and ataxia in adults. (NINDS Adrenoleukodystrophy Information Page.)  The accumulation happened because the peroxisomes lacked the second most abundant protein in the outer membrane of this organelle. Normally, the missing protein transports an enzyme into the peroxisome. The enzyme controls breakdown of a type of very long chain fatty acid. Without the enzyme, the fatty acid builds up in cells in the brain and spinal cord, eventually stripping these cells of their fatty sheaths, made of a substance called myelin, that are vital for nerve transmission. Death comes in a few years.(Disease at the Organelle Level.)

The missing protein in the peroxisomes is vital to the brain and the body, without it the fatty acid will build up uncontrollably inside which slows down the brain activity and eventually the brain fails to work. So peroxisomes are also not recommended to be the organelle in chief.

Mitochondrial disease and mitochondria

Mitochondria plays an important role in cell, it provides energy for the cell to do its job. They are also crucial to help preserve the cell environment and their most valuable contribution is that they take up calcium. They store calcium and release it when it’s necessary to signal other parts that something needed to be regulated. But mitochondria also can do damage to the body, the malfunction of the mitochondria will cause disease.


Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells and also are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria.

Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastrointestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.(What is Mitochondrial Disease?)

Achondrogenesis and Golgi Apparatus

The cell synthesize a huge amount of variety of macromolecules. The main function of the Golgi apparatus is to modify, sort and package the macromolecules that are synthesized by the cells for secretion purposes or for use within the cell. They are also involved in the transport of lipid molecules around the cell and create lysosomes. But the malfunction of the golgi apparatus will cause the harm to the body also. Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus. Achondrogenesis is a rare and severe group of genetic disorders that results in a short trunk, small limbs, and a narrow chest. It occurs when a person’s body does not produce enough growth hormone. As a result, cartilage and bone do not develop properly, causing abnormalities in the skeletal system.(Achondrogenesis.)


The picture above is an example of achondrogenesis type 1A, the baby’s skull bone is very soft and the limbs are very short. As with all three types, the chest is narrow, making it hard for the baby to breathe. The bones in the spine and pelvis do not form well. The baby also has short ribs that break easily. The symptom of  achondrogenesis type 1A is soft skull bone, poorly formed spine and pelvic, bones short and easily breakable ribs.

The malfunction of the golgi apparatus causes all this, it makes this innocent baby born with short limbs and very easy to break. So golgi apparatus sure is not good to be the organelle in chief.

Ribosomopathies and ribosomes

Ribosomes are the cellular component that make proteins from  all amino acids. Ribosomes are made from complexes of RNAs and proteins. Ribosomes are freely suspended in the cytoplasm or attached to the endoplasmic reticulum forming the rough endoplasmic reticulum. On an average in a mammalian cell there can be about 10 million ribosomes. (Ribosomes) But the dysfunction of the ribosomes will cause a disease called ribosomopathies. It is a disease that compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. (Ribosomopathies: Human disorders of ribosome dysfunction.)


Abnormal ribosome biogenesis is linked to several human genetic diseases, particularly inherited bone marrow failure diseases, which are characterized by a predisposition to cancer and a reduced number of blood cells. Such as t Diamond–Blackfan anemia (DBA), Dyskeratosis congenita (DKCX) and Treacher Collins syndrome (TCS). Just by looking at the picture you can see how bad it will be when there is malfunction in ribosomes that’s why they shouldn’t be the organelle in chief .

Work cited

Disease at the Organelle Level. (n.d.). Retrieved January 29, 2015, from http://www.mhhe.com/biosci/ap/foxhumphys/student/olc/h-reading10.html


Organelles & Diseases Related. (n.d.). Retrieved January 29, 2015, from http://www.slideshare.net/xoxositi/organelles-diseases-related


NINDS Adrenoleukodystrophy Information Page. (n.d.). Retrieved January 29, 2015, from http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

Ribosomes. (n.d.). Retrieved January 31, 2015, from http://biology.tutorvista.com/animal-and-plant-cells/ribosomes.html#ribosomes-defintion

Ribosomopathies: Human disorders of ribosome dysfunction. (n.d.). Retrieved January 31, 2015, from http://www.bloodjournal.org/content/115/16/3196

Achondrogenesis. (n.d.). Retrieved January 31, 2015, from http://www.healthline.com/health/achondrogenesis#Overview1


What is Mitochondrial Disease? (n.d.). Retrieved January 31, 2015, from http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934627/k.3711/What_is_Mitochondrial_Disease.htm