Ribosomes are structures within your cells that are necessary in the process of building new proteins by putting amino acids together. According to Georgia State University, ribosomes are responsible for the process of translation, or converting the information in your genetic code into information that codes for specific amino acids (See References 1). Decreased or altered ribosomal activity or various types of defects in the ribosome’s structure can cause ribosomal diseases or ribosomopathies (See References 2 and 4).
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Disease-Causing Mutations of Ribosome Biogenesis Proteins
The ribosome consists of a large and a small subunit, and numerous ribosome biogenese proteins are necessary to allow the ribosome to mature properly, according to an article in “Molecular Biosystems” (See References 4). Certain mutations in small or large subunit proteins can lead to ribosomal diseases. For example, cirhin, or North American Indian childhood cirrhosis, is a condition resulting from a mutation in a small ribosomal subunit biogenesis protein. Alopecia, neurological defects and endocrinopathy syndrome can result from a mutation in a large ribosomal subunit biogenesis protein.
Disease-Modifying Mutations Ribosome Biogenesis Proteins
Some mutations in ribosome biogenesis proteins do not cause disease, but modify conditions that are already present in an individual. According to research published in “Molecular Biosystems,” certain disease result from a combination of factors (See References 4). The most common cause of blindness in the world, primary open angle glaucoma, develops because of environmental and genetic factors. Certain mutations in ribosome biogenesis proteins can make this condition worse.
Genetic Diseases of Small Nucleolar Ribonucleoproteins
Small nucleloar ribonucleoproteins, or snoRNPs, contain proteins and genetic material in the form of RNA. Mutations can lead to genetic disease development, and dyskeratosis congenital is an example (See References 4). This genetic disease results from a mutation on one of 10 genes, according to the authors of an article in the August 2014 version of “Clinical Medicine Insights: Blood Disorders” (See References 2). Symptoms include nail dystrophy, or abnormally shaped nails, altered skin coloring and white patches in the mouth (See References 5).
Genetic Diseases of Ribosomal Proteins
According to research published in “Molecular Biosystems,” insufficient activity of proteins associated with the ribosome structure can lead to genetic disease (See References 4). An example is Diamond-Blackfan anemia, which Genetics Home Reference explains occurs in 5 to 7 out of every million infants (See References 3). The disease affects the ability of bone marrow to produce red blood cells, and anemia usually becomes apparent in the first year of life with symptoms such as fatigue, weakness and pale skin. Small head size, cataracts, glaucoma and kidney defects can also occur.