Description
Cystinosis is a disease of the Whole Body.
When the abnormal accumulation of the Amino acids ( Cystine ) causes damage to the Body Organs, it is known as Cystinosis. It damages the Brain, Pancreas, Kidneys, Eyes, Muscles and the Central Nervous System.
It is a genetic disorder.
The human body is made up of small cells. Cells make tissues. Tissues make Organs. Organs make the Body. The Body works with the help of the instructions that are transmitted from one cell to another. These instructions are regulated by the Genes. A Gene is a genetic material consisting of a chemical known as a DNA. A person passes his Genes from generation to generation. Genes specify the Color of the Skin, Hair, Eyes and the type of Blood. The mutation in the Genes may give rise to Cystinosis. In this, a person is having two mutated genes. If he has only a copy, then he will be considered as a carrier.
If a person get one mutated Gene from his parents then he will be a carrier. However, if he gets two mutated Genes from his parents then Cystinosis develops in his Body.
There is a Gene known as CTNS. It is a protein coding Gene that provides instructions to make Cystinosin protein. The cells contain Lysosomes. It is a membrane that helps in the Digestion and recycling of materials. It breaks down the protein into amino acids. These amino acids are transported by Cystinosin protein. If there is a mutation in CTNS Gene, the protein builds up in the Kidneys and in the Eyes. It damages the cells and then the Organs. It builds up in the Eyes in the form of crystals, which can not be seen by the naked Eyes. It causes Bone problems, Urination problems and Organ failure.
Causes of Cystinosis
Mutation in the CTNS gene
If not treated properly, Cystinosis may cause
Kidney Failure