What causes Sorter's disease?

Sorter's disease, also known as Niemann-Pick disease type C (NPC), is a rare genetic disorder that affects the body's ability to metabolize lipids, leading to an accumulation of lipids in various organs. It is caused by mutations in the NPC1 or NPC2 genes, which are responsible for the production of proteins involved in lipid trafficking within cells.

Genetic mutations:
- NPC1 gene mutation: The NPC1 gene provides instructions for producing a protein that is primarily found in the late endosomes and lysosomes, which are cellular compartments involved in the breakdown and recycling of molecules, including lipids. Mutations in this gene prevent the proper functioning of the NPC1 protein, leading to the accumulation of lipids in these compartments.
- NPC2 gene mutation: The NPC2 gene provides instructions for producing a protein that transports cholesterol within cells. Mutations in this gene result in a deficiency of the NPC2 protein, leading to impaired cholesterol trafficking and subsequent lipid accumulation.

Lipid accumulation:
- In healthy individuals, lipids are transported within cells and utilized for various cellular functions. However, in individuals with Sorter's disease, the impaired lipid trafficking caused by gene mutations leads to the accumulation of cholesterol, glycosphingolipids, and other lipids in various tissues, especially in the liver, spleen, brain, and lungs.
- The accumulation of lipids disrupts normal cellular processes, causing progressive damage to affected organs over time.

Inheritance:
- Sorter's disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If both parents carry a single copy of the mutated gene, they have a 25% chance of having a child with Sorter's disease with each pregnancy.

Conclusion:
Sorter's disease is caused by mutations in the NPC1 or NPC2 genes, which interfere with lipid trafficking within cells. This disruption leads to the accumulation of lipids in various organs and subsequent organ damage. The disease is inherited in an autosomal recessive manner, and its symptoms and severity can vary widely among affected individuals. Early diagnosis and management are crucial for improving the quality of life for individuals with Sorter's disease.

It spreads by the sheeps to the sorters by a bacterium called ANTHRAX...