RIBOSOMES FUNCTION AND DISEASE ASSOCIATED WITH RIBOSOME DYSFUNCTION
Cells are the smallest and structural living unit of every living organism. All cells consist of cell membrane also called plasma membrane which separates the cells internal from the outer environment. Every cell is made up of molecules which are nucleic acid, lipids, carbohydrates, and protein. Cells are divided into two major categories that are eukaryotic cell and prokaryotic cell. Eukaryotic cells include plant and animal cells whereas prokaryotic cells include bacteria and algae. Both cells have plasma membrane, cytoplasm, DNA and ribosomes. The major difference between these two cells are eukaryotic cells contains nucleus however prokaryotic cells do not have a nucleus. Prokaryotic cells lack …show more content…
It is an inherited disorder in which the bone marrow does not function properly and does not make white blood cells. As a result, there is a lack of neutrophils which leads to neutropenia. Neutropenia is a condition have very low number of neutrophils making the patient prone to infections. People with Shwachman-Diamond syndrome have a higher risk of developing disorders that affect the production of blood cell which is myelodysplastic syndrome (MDS) and aplastic anemia and is also prone to cancer known as acute myeloid leukemia (AML). Patients with Schwachman-Diamond syndrome also experiences pancreatic insufficiency in which the pancreas fails to produce sufficient enzymes. Patients have complications regarding bone formation, liver, heart, teeth, skin, eyes, and endocrine system.
The main cause of the Schwachman-Diamond syndrome is due to the mutation in the SBDS gene which is responsible for providing instructions to make proteins. it plays a role in processing RNA which is involved in ribosomes production. 90% of the case of Schwachman-Diamond syndrome is identified to be caused by the mutation of SBDS